commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Epidemiological data/Rare diseases natural history/en_product9_ages.xml b/Epidemiological data/Rare diseases natural history/en_product9_ages.xml index 2439ec3..24bb793 100755 --- a/Epidemiological data/Rare diseases natural history/en_product9_ages.xml +++ b/Epidemiological data/Rare diseases natural history/en_product9_ages.xml @@ -1,165888 +1,167901 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 166024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 58 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 - Alexander disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 166032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 - Multiple epiphyseal dysplasia-miniepiphyses syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 - Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - - - 166038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 - Metaphyseal chondrodysplasia, Kaitila type - - Disease - - - Disorder - - - - Neonatal - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 166078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 - Von Willebrand disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 166084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 - Von Willebrand disease type 2A - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 - Von Willebrand disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 166090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 - Von Willebrand disease type 2M - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 - Von Willebrand disease type 2B - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 166093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 - Von Willebrand disease type 2N - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 166096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 - Von Willebrand disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 166108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Birk-Barel syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 166113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 - Bazex syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535 - Rare cutaneous lupus erythematosus - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - - - 166119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 - Isolated osteopoikilosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 - Dentinogenesis imperfecta type 2 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 166265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 - Dentinogenesis imperfecta type 3 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 166282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 - Hereditary sick sinus syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 166286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 - Porokeratotic eccrine ostial and dermal duct nevus - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 166291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291 - Dirofilariasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 166308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 - Benign infantile focal epilepsy with midline spikes and waves during sleep - - Disease - - - Disorder - - - - Infancy - - - - - - - 2912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 - Poliomyelitis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 166409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 - Photosensitive occipital lobe epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 - Scleroderma - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 - Recessive X-linked ichthyosis - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 166421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 - Orgasm-induced seizures - - Disease - - - Disorder - - - - Adult - - - - - - - 166418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 - Eating reflex epilepsy - - Disease - - - Disorder - - - - All ages - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 166412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 - Hot water reflex epilepsy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 166433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 - Epilepsy with reading-induced seizures - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 - Beta-thalassemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 - Alpha-thalassemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 - Duchenne and Becker muscular dystrophy - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked recessive - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Mitochondrial inheritance - - - Not applicable - - - - - 269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 - Facioscapulohumeral dystrophy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - Not applicable - - - - - 593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 - Myofibrillar myopathy - - Category - - - Group of disorders - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Mitochondrial inheritance - - - - - 597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 - Central core disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 - Nemaline myopathy - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 - Paramyotonia congenita of Von Eulenburg - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 163931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 - Acrodermatitis continua of Hallopeau - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 163927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 - Pustulosis palmaris et plantaris - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 163934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934 - Atopic keratoconjunctivitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 - Thomsen and Becker disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 163921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 - Posttransplant acute limbic encephalitis - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 163971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 - X-linked intellectual disability, Cilliers type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 163979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 - X-linked intellectual disability-craniofacioskeletal syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 163956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 - X-linked intellectual disability, Nascimento type - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 164726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 - Acute myeloid leukemia and myelodysplastic syndromes related to radiation - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked dominant - - - X-linked recessive - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - Disorder - - - - Infancy - - - - - X-linked dominant - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Multigenic/multifactorial - - - - - 1941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 - Juvenile absence epilepsy - - Disease - - - Disorder - - - - Adolescent - - - - - Multigenic/multifactorial - - - Unknown - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 - Autosomal recessive polycystic kidney disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 164736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 - Familial advanced sleep-phase syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Unknown - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 - Amyotrophic lateral sclerosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 165955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165955 - Wound myiasis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 - Lafora disease - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 165958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958 - Cavitary myiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 166016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 - Multiple epiphyseal dysplasia, Lowry type - - Disease - - - Disorder - - - - Neonatal - - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 - Systemic lupus erythematosus - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 166002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790 - Retinoblastoma - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 3099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099 - Rheumatic fever - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 47 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 - X-linked agammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Not applicable - - - X-linked recessive - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal recessive - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 163525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525 - Subacute cutaneous lupus erythematosus - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 - Stargardt disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 163531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531 - Chronic cutaneous lupus erythematosus - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 162516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 - Isolated congenital nasal pyriform aperture stenosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Unknown - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 - Non-acquired isolated growth hormone deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 - T-B+ severe combined immunodeficiency due to gamma chain deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 163654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 - Kennedy disease - - Disease - - - Disorder - - - - Adult - - - - - X-linked recessive - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 163668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 - Spondyloepiphyseal dysplasia, MacDermot type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 163662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 - Spondyloepiphyseal dysplasia, Reardon type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 - Hypophosphatasia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 163596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 - Hb Bart's hydrops fetalis - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Mitochondrial inheritance - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 163708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 - Cryptogenic late-onset epileptic spasms - - Disease - - - Disorder - - - - Childhood - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 163703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 - Febrile infection-related epilepsy syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 163727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 163721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 - Rolandic epilepsy-speech dyspraxia syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 163684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 163681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 - CNTNAP2-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - X-linked recessive - - - - - 16 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 - Blue cone monochromatism - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Mitochondrial inheritance - - - - - 163699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699 - Alveolar soft tissue sarcoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 163696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 - Action myoclonus-renal failure syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Not applicable - - - Unknown - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Neonatal - - - - - Autosomal recessive - - - - - 214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 - Cystinuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Semi-dominant - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 - Li-Fraumeni syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Mitochondrial inheritance - - - Not applicable - - - - - 640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 - Hereditary neuropathy with liability to pressure palsies - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 - Hyperkalemic periodic paralysis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673 - Malaria - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - Not applicable - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 - Pfeiffer syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 - Crigler-Najjar syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 160148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 - Cap polyposis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 2442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 - X-linked lymphoproliferative disease - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 169808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 - Mild hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 169802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 - Severe hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 169805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 - Moderate hemophilia A - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 2443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 - Familial hemophagocytic lymphohistiocytosis - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - - - Autosomal recessive - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247 - Schistosomiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 - Bartter syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 1646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 - Chromosome Y microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - Y-linked - - - - - 169464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 - Primary CD59 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Unknown - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 97 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 - Familial paroxysmal ataxia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 169467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 - Recurrent Neisseria infections due to factor D deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 169799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 - Mild hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 169796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 - Moderate hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 169793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 - Severe hemophilia B - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - Disorder - - - - Adult - - - - - X-linked recessive - - - - - 999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 - Ermine phenotype - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - Clinical group - - - Group of disorders - - - - Neonatal - - - - - Autosomal recessive - - - - - 171442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 - Adult-onset nemaline myopathy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 171445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 - Muscle filaminopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 171607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 - X-linked spastic paraplegia type 34 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked recessive - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 171612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 - Autosomal dominant spastic paraplegia type 37 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 171617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 - Autosomal dominant spastic paraplegia type 38 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - Disorder - - - - Adult - - - Childhood - - - - - Mitochondrial inheritance - - - - - 171622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 - Autosomal recessive spastic paraplegia type 32 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 171629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 - Autosomal recessive spastic paraplegia type 35 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - X-linked recessive - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - Multigenic/multifactorial - - - Not applicable - - - Oligogenic - - - X-linked dominant - - - - - 930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 - Idiopathic achalasia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - - - 998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 - Albinism-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 - 22q11.2 duplication syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 169079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 - Cernunnos-XLF deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 - Distal duplication 18q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 - Trisomy 18p syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 168984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 - CLAPO syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 168999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999 - Malignant melanoma of the mucosa - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 169105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 - Good syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 169090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 - Combined immunodeficiency due to CRAC channel dysfunction - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 169095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 - Severe combined immunodeficiency due to FOXN1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 169082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 - Combined immunodeficiency due to CD3gamma deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 169085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 - Susceptibility to respiratory infections associated with CD8alpha chain mutation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 168829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 - Primary peritoneal carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 168816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816 - Peritoneal inclusion cyst - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 168811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811 - Malignant peritoneal mesothelioma - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 - Darier disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 168782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 - Childhood disintegrative disorder - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 168966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 - Composite lymphoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 168960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 - Refractory anemia with excess blasts in transformation - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 8 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 - 47,XYY syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 - Distal monosomy 7q36 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 168956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 - Hypereosinophilic syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - Unknown - - - - - 1600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 - Monosomy 18p syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 168940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 - Chronic eosinophilic leukemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked dominant - - - - - 626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 - Large/giant congenital melanocytic nevus - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 11 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 - Pentasomy X syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 169154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 - Glycogen storage disease due to phosphorylase kinase deficiency - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - X-linked recessive - - - - - 169150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 - Immunodeficiency due to a late component of complement deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 169160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 - T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 169157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 - T-B+ severe combined immunodeficiency due to CD45 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 169147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 - Immunodeficiency due to a classical component pathway complement deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 169142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 - Recurrent infections due to specific granule deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - Group of disorders - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 3307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 - Tetrasomy 18p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 169189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 - Autosomal dominant centronuclear myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - Disorder - - - - Adult - - - Infancy - - - - - Autosomal recessive - - - - - 963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 - Acromegaly - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 1006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 - Alopecia antibody deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 1046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 - Lethal hemolytic anemia-genital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 9 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 - Tetrasomy X syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 168615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 - Hereditary persistence of alpha-fetoprotein - - Biological anomaly - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 168612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 - Congenital deficiency in alpha-fetoprotein - - Biological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 - Ring chromosome 18 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 168621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 - Dysplasia of head of femur, Meyer type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 168629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 - Autosomal thrombocytopenia with normal platelets - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 - Cooper-Jabs syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 - Isolated corpus callosum agenesis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 168632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 - Generalized basaloid follicular hamartoma syndrome - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 1334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 - Chronic mucocutaneous candidiasis - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 168583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 - Hereditary North American Indian childhood cirrhosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 168577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 - Hereditary cryohydrocytosis with reduced stomatin - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 168588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 - Hyperandrogenism due to cortisone reductase deficiency - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 168601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 - Congenital enteropathy due to enteropeptidase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 168606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 - Seborrhea-like dermatitis with psoriasiform elements - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 168552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 168555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 - Spondylometaphyseal dysplasia, A4 type - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 - Caffey disease - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Unknown - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 168572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 - Native American myopathy - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 90 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 - Argininemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 168443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 168451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - Disease - - - Disorder - - - - Infancy - - - - - - - 168454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 - Neurogenic arthrogryposis multiplex congenita - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 168544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 - Spondylometaphyseal dysplasia, Golden type - - Disease - - - Disorder - - - - No data available - - - - - X-linked recessive - - - - - 1147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 - Sheldon-Hall syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672 - Diencephalic syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 167635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 - Scleromyxedema - - Disease - - - Disorder - - - - Adult - - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - X-linked dominant - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 - Isolated glycerol kinase deficiency - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 - Multiple carboxylase deficiency - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 - Carbamoyl-phosphate synthetase 1 deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 - Isolated Dandy-Walker malformation - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 1556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 - Cutis marmorata telangiectatica congenita - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 2248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 - Hypoplastic left heart syndrome - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 - Neonatal hemochromatosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 - Congenital diaphragmatic hernia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 - Congenital hydrocephalus - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 - Hawkinsinuria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 - Frontal encephalocele - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 - Fetal parvovirus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - Disorder - - - - Infancy - - - - - Mitochondrial inheritance - - - - - 1880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 - Ebstein malformation of the tricuspid valve - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 - Fetal alcohol syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 - Multicystic dysplastic kidney - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 - Omphalocele - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 - Neuroblastoma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 - Juvenile Paget disease - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 2746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 - Opsismodysplasia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 - Prune belly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - X-linked recessive - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 2903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 - Familial spontaneous pneumothorax - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 2901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 - Neuralgic amyotrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 - Isolated Pierre Robin sequence - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - Not applicable - - - Unknown - - - - - 290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 - Congenital rubella syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Not applicable - - - Unknown - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 - Foveal hypoplasia-presenile cataract syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 180188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 - Isolated congenital breast hypoplasia/aplasia - - Morphological anomaly - - - Disorder - - - - - - Autosomal recessive - - - - - 2300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 - Isolated multiple intestinal atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 180226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226 - Embryonal carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Not applicable - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 180229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229 - Polyembryoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 2370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 - Larsen-like osseous dysplasia-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - Group of disorders - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - - - 180247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247 - Vaginal carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked recessive - - - - - 2430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 - Congenital macroglossia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 - Congenital pulmonary lymphangiectasia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 - Congenital laryngomalacia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 180234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234 - Mixed germ cell tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 - Isolated congenital laryngeal web - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 180242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242 - Malignant tumor of fallopian tubes - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 180275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275 - Paget disease of the nipple - - Disease - - - Disorder - - - - Adult - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 - Short rib-polydactyly syndrome - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 180261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 - Phyllodes tumor of the breast - - Disease - - - Disorder - - - - Adult - - - - - - - 2444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 - Congenital pulmonary airway malformation - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 - Potassium-aggravated myotonia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 - Early-onset autosomal dominant Alzheimer disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked recessive - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - X-linked recessive - - - - - 70 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 - Proximal spinal muscular atrophy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 69 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69 - Amyloidosis - - Category - - - Group of disorders - - - - All ages - - - - - - - 180176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176 - Familial juvenile hypertrophy of the breast - - Morphological anomaly - - - Disorder - - - - - - Not applicable - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 - Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - X-linked recessive - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 - Schizencephaly - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 178566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 - Mycosis fungoides and variants - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 - Sirenomelia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 - Infantile spasms-broad thumbs syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 - Tracheal agenesis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 - Congenital toxoplasmosis - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 - Congenital varicella syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 178478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478 - Infant botulism - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 178481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481 - Intestinal botulism - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 178469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 - Autosomal dominant non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 178475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475 - Wound botulism - - Etiological subtype - - - Subtype of disorder - - - - All ages - - - - - - - 178461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 - X-linked myopathy with postural muscle atrophy - - Disease - - - Disorder - - - - Adult - - - - - X-linked recessive - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 178396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - Not applicable - - - - - 178400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 - Distal myopathy with anterior tibial onset - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 178382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 - Congenital vertical talus - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 178389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - X-linked recessive - - - - - 178377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 178345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 - Aromatase excess syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 178355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 - Smith-McCort dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 178338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 - UV-sensitive syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 - Behçet disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Multigenic/multifactorial - - - - - 732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 - Polymyositis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 - Dermatomyositis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 - Multiminicore myopathy - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 - Sporadic Creutzfeldt-Jakob disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 178517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 - Localized pagetoid reticulosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 178512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 - Folliculotropic mycosis fungoides - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 178509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 - Perry syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 178506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 - Brain calcification, Rajab type - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal recessive - - - - - 611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611 - Inclusion body myositis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 178487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487 - Adult intestinal botulism - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - - - 177926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 - Bleeding disorder in hemophilia A carriers - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - X-linked recessive - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 177929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 - Bleeding disorder in hemophilia B carriers - - Clinical subtype - - - Subtype of disorder - - - - - - X-linked recessive - - - - - 685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 - Hereditary spastic paraplegia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 - Osteogenesis imperfecta - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 178029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029 - Arginine vasopressin deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 - Malignant hyperthermia of anesthesia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 - Congenital adrenal hyperplasia - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 - Gaucher disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 - Hirschsprung disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - Not applicable - - - - - 448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 - Hemophilia - - Clinical group - - - Group of disorders - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 - Epidermolysis bullosa simplex - - Clinical group - - - Group of disorders - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 174590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 - Congenital hypogonadotropic hypogonadism - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 178320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320 - Acute lung injury - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 178333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 - Åland Islands eye disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 178303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 - 8q22.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 - Primary ciliary dyskinesia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 178148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - - - - - 178307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 - Reticulate acropigmentation of Kitamura - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589 - Myasthenia gravis - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 - Usher syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - Disorder - - - - All ages - - - - - X-linked dominant - - - X-linked recessive - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 - Congenital long QT syndrome - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 - Retinitis pigmentosa - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked recessive - - - - - 375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 - Anti-glomerular basement membrane disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 - Eosinophilic granulomatosis with polyangiitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164 - Allergic bronchopulmonary aspergillosis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406 - Locked-in syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509 - Leptospirosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 - Immunoglobulin A vasculitis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 - Alternating hemiplegia of childhood - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked recessive - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 - Fibrous dysplasia of bone - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 - Autosomal dominant keratitis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 - Leydig cell hypoplasia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 171929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 - Trisomy 10p syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 - Citrullinemia - - Category - - - Group of disorders - - - - Adult - - - Neonatal - - - - - Autosomal recessive - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 - Congenital hypothyroidism - - Category - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - X-linked dominant - - - - - 3166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 - Sialuria - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810 - Shigellosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 - Eosinophilic fasciitis - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 2420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 - Primary pulmonary lymphoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 - Microscopic polyangiitis - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 - Granulomatosis with polyangiitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863 - Trichinellosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 171695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 - Parkinsonian-pyramidal syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 171700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700 - Diffuse panbronchiolitis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 171706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 171709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 - Male infertility due to globozoospermia - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 171719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 - Cutis laxa-Marfanoid syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163 - Aspergillosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 171723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 - White sponge nevus - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 171673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673 - Limbal stem cell deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 - Maple syrup urine disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 171690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 - Metabolic myopathy due to lactate transporter defect - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - X-linked recessive - - - - - 171863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 - Autosomal dominant spastic paraplegia type 42 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 171871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 - Renal pseudohypoaldosteronism type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 - Exstrophy-epispadias complex - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 - Gastroschisis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 171881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 - Cap myopathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 171876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 - Generalized pseudohypoaldosteronism type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=795 - Rare form of salmonellosis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 - Sarcoidosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 92 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 - Juvenile idiopathic arthritis - - Clinical group - - - Group of disorders - - - - Childhood - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 1201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 - Small bowel atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - Not applicable - - - Unknown - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 171839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 - Larynx atresia - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 1199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 - Esophageal atresia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304 - Brucellosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173 - Cholera - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 - Tetralogy of Fallot - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 200418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 - Immunodeficiency with factor I anomaly - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 - Autosomal dominant polycystic kidney disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 200421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 - Immunodeficiency with factor H anomaly - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 - Autosomal dominant severe congenital neutropenia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 - Tricuspid atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 98 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 - Interatrial communication - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - Not applicable - - - - - 330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 - Congenital factor XII deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 1482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482 - Gonococcal conjunctivitis - - Disease - - - Disorder - - - - All ages - - - - - - - 1959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 - Evans syndrome - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284 - Alveolar echinococcosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 - Paroxysmal dyskinesia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 199340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 - Muscular dystrophy, Selcen type - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293 - Congenital herpes simplex virus infection - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 3287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 - Takayasu arteritis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 - Extramammary Paget disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 - Congenital lobar emphysema - - Morphological anomaly - - - Disorder - - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 199329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 - Congenital myopathy, Paradas type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 - Congenital mesoblastic nephroma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 199642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 - Isolated congenital microcephaly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=549 - Legionnaires disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704 - Pemphigus vulgaris - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 199354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 - Gerstmann-Straussler-Scheinker syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 - Fatal familial insomnia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 199293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 - Congenital microgastria - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 3452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 - Whipple disease - - Disease - - - Disorder - - - - No data available - - - - - Not applicable - - - - - 199282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 - Harlequin syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 199285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 - Hereditary hypercarotenemia and vitamin A deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331 - Kawasaki disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Multigenic/multifactorial - - - - - 199276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 - Familial multiple lipomatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Infancy - - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002 - Immune thrombocytopenia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 199267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267 - Infantile digital fibromatosis - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 199315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 - Familial clubfoot with or without associated lower limb anomalies - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 - Congenital respiratory-biliary fistula - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 - Bronchogenic cyst - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Unknown - - - - - 274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 - Bernard-Soulier syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 199302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 - Isolated cleft lip - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 199306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 - Cleft lip/palate - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 - Acatalasemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 3020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020 - Ramsay Hunt syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 199296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 - Congenital isolated ACTH deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 - Craniosynostosis - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - Unknown - - - X-linked recessive - - - - - 199299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299 - Late-onset isolated ACTH deficiency - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 1675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 - Dihydropyrimidine dehydrogenase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 189427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 - Cushing syndrome due to bilateral macronodular adrenocortical disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal recessive - - - - - 3129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 - Sarcosinemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494 - Ménétrier disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 - Primary sclerosing cholangitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 199251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251 - Ledderhose disease - - Disease - - - Disorder - - - - Adult - - - - - - - 199247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 - Corticosteroid-binding globulin deficiency - - Disease - - - Disorder - - - - Adult - - - - - Semi-dominant - - - - - 199244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244 - Nelson syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - Elderly - - - - - - - 199241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 - Pulmonary capillary hemangiomatosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 2134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 - Atypical hemolytic uremic syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 189466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780 - Rhabdomyosarcoma - - Disease - - - Disorder - - - - Childhood - - - - - Multigenic/multifactorial - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - Not applicable - - - - - 2806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 - Subacute sclerosing leukoencephalitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467 - Systemic mastocytosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 1942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 - Epilepsy with myoclonic-atonic seizures - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 1943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 - Early-onset progressive encephalopathy with migrant continuous myoclonus - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 3299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299 - Tetanus - - Disease - - - Disorder - - - - All ages - - - - - - - 2302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 - Asbestos intoxication - - Disease - - - Disorder - - - - All ages - - - - - - - 770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770 - Rabies - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3386 - American trypanosomiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 1329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329 - Complete atrioventricular septal defect - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137 - Autoimmune hepatitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 - Primary biliary cholangitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Multigenic/multifactorial - - - Unknown - - - - - 397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397 - Giant cell arteritis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 2932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932 - Chronic inflammatory demyelinating polyneuropathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 - Multiple symmetric lipomatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - Not applicable - - - - - 1656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656 - Dermatitis herpetiformis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198 - Stiff person spectrum disorder - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 2929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 - Juvenile polyposis syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 - Budd-Chiari syndrome - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 - Nephroblastoma - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 1489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1489 - Whooping cough - - Disease - - - Disorder - - - - All ages - - - - - - - 2764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764 - Osteochondritis dissecans - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 - Myeloperoxidase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 3389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389 - Tuberculosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 1679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1679 - Diphtheria - - Disease - - - Disorder - - - - All ages - - - - - - - 1267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267 - Botulism - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 - Pityriasis rubra pilaris - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 2103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103 - Guillain-Barré syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - - - 2070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 - Eosinophilic gastroenteritis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 - Transient familial neonatal hyperbilirubinemia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 183707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 - Infantile LAD-like disease due to RAC2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 - Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449 - Hepatoblastoma - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 183675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 - Recurrent infections associated with rare immunoglobulin isotypes deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 2177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 - Hydranencephaly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - Unknown - - - - - 533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=533 - Listeriosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 - Laryngocele - - Malformation syndrome - - - Disorder - - - - All ages - - - - - - - 2380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 - Legg-Calvé-Perthes disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677 - Pancreatoblastoma - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 183660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 - Severe combined immunodeficiency - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 - Giant axonal neuropathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 - Netherton syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 - Young-onset Parkinson disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 - Hereditary sensory and autonomic neuropathy type 4 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 - Congenital factor V deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 - Liddle syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427 - Familial hypoaldosteronism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 - Congenital stationary night blindness - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 - Familial Mediterranean fever - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 - Choroideremia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked recessive - - - - - 754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 - Androgen insensitivity syndrome - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 - Congenital factor VII deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 - Familial hyperaldosteronism type I - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 - 21q deletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146 - Differentiated thyroid carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 1331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 - Familial prostate cancer - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 - Carnitine palmitoyltransferase II deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446 - Ring chromosome 22 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 - ICF syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 - Bazex-Dupré-Christol syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 86 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86 - Familial abdominal aortic aneurysm - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 183422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 - Polymalformative genetic syndrome with increased risk of developing cancer - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 48 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 - Congenital bilateral absence of vas deferens - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - - - Multigenic/multifactorial - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 - Severe combined immunodeficiency due to DCLRE1C deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 182090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090 - Pulmonary arterial hypertension - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 - Cherubism - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047 - Sideroblastic anemia - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - Not applicable - - - X-linked dominant - - - X-linked recessive - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Self-limited neonatal epilepsy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - Biological anomaly - - - Disorder - - - - - - Autosomal dominant - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 - Lujan-Fryns syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 - Van der Woude syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 - Hereditary progressive cardiac conduction defect - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 1597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597 - Distal deletion 17q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 - 3q13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643 - Xp22.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 - Deletion 5q35 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699 - Trisomy 12p syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 - Non-distal duplication 10q syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507 - Leishmaniasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548 - Leprosy - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 - Congenital isolated hyperinsulinism - - Clinical group - - - Group of disorders - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 - Meningioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 - Cleft palate - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 - Léri-Weill dyschondrosteosis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 - Gitelman syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - Y-linked - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 - Non-syndromic anorectal malformation - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150 - Nasopharyngeal carcinoma - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133 - Chronic beryllium disease - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 1552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 - Currarino syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 1450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450 - Ring chromosome 8 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448 - Ring chromosome 6 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 1581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 - Non-distal deletion 10q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580 - Distal deletion 10p syndrome - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Not applicable - - - Unknown - - - - - 1437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437 - Ring chromosome 1 syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 - Progressive familial intrahepatic cholestasis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447 - Ring chromosome 4 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 - Ring chromosome 20 syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Unknown - - - - - 1439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439 - Ring chromosome 12 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 3306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 - Inverted duplicated chromosome 15 syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 3375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 - Trisomy X syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 3310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310 - Tetrasomy 9p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 - Familial peripheral male-limited precocious puberty - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305 - Tetraploidy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 - Spina bifida-hypospadias syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 1708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 - Mosaic trisomy 16 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711 - Mosaic trisomy 17 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692 - Mosaic trisomy 1 syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698 - Mosaic trisomy 12 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706 - Mosaic trisomy 15 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 - Ring chromosome 21 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 - Isolated acheiropodia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929 - Achalasia-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 - Insulin-resistance syndrome type A - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922 - Familial nasal acilia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - X-linked recessive - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 - 3-hydroxyisobutyric aciduria - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 - Short-limb skeletal dysplasia with severe combined immunodeficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 - Achondrogenesis - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 - Acrocraniofacial dysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945 - Acalvaria - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 - Acropectorovertebral dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958 - Acro-renal-mandibular syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702 - Non-distal duplication 13q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703 - Mosaic trisomy 14 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738 - Trisomy 4p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 1742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 1745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745 - Distal duplication 6p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752 - Trisomy 8q syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 - Epilepsy-microcephaly-skeletal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 - Epilepsy-telangiectasia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 - Griscelli syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 - Familial visceral myopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 - Carnitine palmitoyl transferase 1A deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - Disease - - - Disorder - - - - Childhood - - - - - No data available - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 - Dental ankylosis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Unknown - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 - Aniridia-absent patella syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 - Congenital left ventricular aneurysm - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 - Metaphyseal anadysplasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 - Hydrops fetalis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 1037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 - Arthrogryposis multiplex congenita - - Clinical group - - - Group of disorders - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 1126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 - Aprosencephaly cerebellar dysgenesis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 - Ocular motor apraxia, Cogan type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 - Radial deficiency-tibial hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 - Lung agenesis-heart defect-thumb anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 - Ulnar hypoplasia-split foot syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 - Fibular aplasia-ectrodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 - Aplasia cutis-myopia syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 - Anophthalmia plus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 - Anonychia-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 - Agnathia-holoprosencephaly-situs inversus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 - Internal carotid absence - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977 - Adrenomyodystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 - Hereditary sensory and autonomic neuropathy type 2 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 - Acrorenal syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 40 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 - Acromesomelic dysplasia, Maroteaux type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 - Acromicric dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 - Hereditary continuous muscle fiber activity - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 - Isolated absence/hypoplasia of fingers excluding thumb, unilateral - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 - Acro-renal-ocular syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 - Acromesomelic dysplasia, Hunter-Thompson type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 139411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 - Carney triad - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 139414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414 - Congenital panfollicular nevus - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 - Amelo-onycho-hypohidrotic syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - - - 139417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417 - Acute transverse myelitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 1031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 - Enamel-renal syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 139423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423 - Idiopathic acute transverse myelitis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 139426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426 - Perioral myoclonia with absences - - Disease - - - Disorder - - - - Childhood - - - - - - - 139431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431 - Epilepsy with eyelid myoclonia - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 1035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 - Beta-mercaptolactate cysteine disulfiduria - - Biological anomaly - - - Disorder - - - - No data available - - - - - - - 139436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436 - Multicentric reticulohistiocytosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 1021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 - Amaurosis-hypertrichosis syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 - Congenital generalized hypertrichosis, Ambras type - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Unknown - - - - - 139390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 - Non-syndromic craniosynostosis - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - X-linked recessive - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - X-linked recessive - - - - - 139402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402 - Drug reaction with eosinophilia and systemic symptoms - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 - Alopecia universalis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Multigenic/multifactorial - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 - Scalp defects-postaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - X-linked dominant - - - - - 1248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 - Maxillonasal dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 - Böök syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 - Bonnemann-Meinecke-Reich syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 - Banki syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 - Bencze syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - Disorder - - - - - - Autosomal recessive - - - - - 1237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237 - Beemer-Ertbruggen syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 - Auriculoosteodysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - No data available - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 137628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 - Cardiac anomalies-heterotaxy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 - Brachyolmia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Not applicable - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - X-linked dominant - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 137667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 - Capillary malformation-arteriovenous malformation - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - Disease - - - Disorder - - - - Infancy - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 - Branchio-oculo-facial syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 137639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 137577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577 - Neonatal hypoxic and ischemic brain injury - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 137583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583 - Vulvar intraepithelial neoplasia - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 137596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596 - Neurotrophic keratopathy - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 137599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599 - Herpes simplex virus stromal keratitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 - Congenital unilateral hypoplasia of depressor anguli oris - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160 - Chylous ascites - - Disease - - - Disorder - - - - All ages - - - - - - - 137817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817 - Arachnoiditis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 - Cerebellar ataxia-ectodermal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 137839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137839 - Lemierre syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 - Ataxia-tapetoretinal degeneration syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Unknown - - - - - 1175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 - X-linked progressive cerebellar ataxia - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 - Benign paroxysmal tonic upgaze of childhood with ataxia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 137867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 - Madras motor neuron disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - X-linked recessive - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Unknown - - - X-linked dominant - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 137698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137698 - Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 137686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686 - Asherman syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 137776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 - Lethal congenital contracture syndrome type 2 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 - Arthrogryposis multiplex congenita-whistling face syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 - Kuskokwim syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 137807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807 - Primary cutaneous amyloidosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 137783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 - Lethal congenital contracture syndrome type 3 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214 - Progressive hemifacial atrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 1216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 - Autosomal dominant congenital benign spinal muscular atrophy - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221 - Cheilitis glandularis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227 - Bangstad syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 - Ataxia-photosensitivity-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 1182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 - Spastic ataxia with congenital miosis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 137893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 - Male infertility due to large-headed multiflagellar polyploid spermatozoa - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 - Spinocerebellar ataxia-dysmorphism syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 137908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 - Hypotonia with lactic acidemia and hyperammonemia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 137914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 - Choanal atresia - - Morphological anomaly - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 - Atkin-Flaitz syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 137917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 - Choanal atresia, unilateral - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 137920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 - Choanal atresia, bilateral - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 - Colonic atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 137926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 - Primary laryngeal lymphangioma - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 - Duodenal atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 137932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 - Congenital laryngeal palsy - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 137935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 - Airway infantile hemangioma - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 1449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449 - Ring chromosome 7 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 141242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 - Paramedian nasal cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 - Cleidorhizomelic syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 - Ring chromosome 14 syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Not applicable - - - Unknown - - - - - 141234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 - Median facial cleft - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - - - 1443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443 - Ring chromosome 19 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 141261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 - Tessier number 5 facial cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 141258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 - Tessier number 4 facial cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 141253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 - Oblique facial cleft - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 141199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199 - Cerebrofacial arteriovenous metameric syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 1429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 - Benign hereditary chorea - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 141194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194 - Cerebrofacial arteriovenous metameric syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 141184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184 - Rapidly involuting congenital hemangioma - - Disease - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 141214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 - Isolated congenital syngnathia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 141209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209 - Diffuse lymphatic malformation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 - Choroidal atrophy-alopecia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 1490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 - Corneal dystrophy-perceptive deafness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 - Cooks syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 155867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 - Paramedian facial cleft - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 141276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 - Tessier number 7 facial cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 141265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 - Tessier number 6 facial cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 141269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 - Lateral facial cleft - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - - - 1471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 - Coloboma of macula-brachydactyly type B syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 141288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 - Midline cervical cleft - - Morphological anomaly - - - Disorder - - - - - - Not applicable - - - - - 141291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 - Cleft lip and alveolus - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 141091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 - Polyrrhinia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 141083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 - Nasolacrimal duct cyst - - Morphological anomaly - - - Disorder - - - - Adult - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 - Uncombable hair syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 141099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 - Proboscis lateralis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 141096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 - Supernumerary nostril - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 - Tarsal-carpal coalition syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 - Familial calcium pyrophosphate deposition - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 141112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 - Nasal glial heterotopia - - Disease - - - Disorder - - - - - - Not applicable - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 - Isolated cerebellar agenesis - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 141077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 - Epignathus - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 141074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 - External auditory canal aplasia/hypoplasia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 141152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 - Isolated congenital hypoglossia/aglossia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 - Metaphyseal chondrodysplasia, Schmid type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 141163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 - Glossopalatine ankylosis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 141168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168 - Frontonasal arteriovenous malformation - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 141171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171 - Maxillary arteriovenous malformation - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 141174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174 - Mandibular arteriovenous malformation - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 141179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179 - Non-involuting congenital hemangioma - - Disease - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 141118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 - Nasal encephalocele - - Clinical subtype - - - Subtype of disorder - - - - - - Unknown - - - - - 141121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 - Congenital subglottic stenosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 141127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 - Congenital tracheal stenosis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 141145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 - Hemifacial hyperplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 141148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 - Hemifacial myohyperplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 156728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 1373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 - Cataract-aberrant oral frenula-growth delay syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 1368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 - Cataract-ataxia-deafness syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 - Carnosinase deficiency - - Biological anomaly - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 157826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826 - Congenital epulis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390 - Night blindness-skeletal anomalies-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 157820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 - Cold-induced sweating syndrome - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 1389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - Unknown - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 157801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 157791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 - Epithelioid hemangioendothelioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 157769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 - Situs ambiguus - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Multigenic/multifactorial - - - - - 157716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 - Late infantile CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 157719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 - Juvenile or adult CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 1380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 - Cataract-nephropathy-encephalopathy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 157713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 - Congenital or early infantile CACH syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 156731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 - Dyssegmental dysplasia, Rolland-Desbuquois type - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 - Cataract-microcornea syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325 - Camptodactyly-taurinuria syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327 - Camptodactyly syndrome, Guadalajara type 1 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 - Camurati-Engelmann disease - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314 - Symmetrical thalamic calcifications - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 - Camptobrachydactyly - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 - Distal limb deficiencies-micrognathia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 - Infantile choroidocerebral calcification syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 - Congenital heart defect-round face-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 1338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 - Heart defect-tongue hamartoma-polysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 - Persistent Müllerian duct syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 - Hyperkeratosis-hyperpigmentation syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 1335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 - Pentalogy of Cantrell - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1682 - Arterial dissection-lentiginosis syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 1757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 - Fibular dimelia-diplopodia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780 - Thakker-Donnai syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - Unknown - - - - - 1784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 - Acrofrontofacionasal dysostosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 - Dysosteosclerosis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 1790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 - Hypomandibular faciocranial dysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 139441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 - Hypomyelination with atrophy of basal ganglia and cerebellum - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 - Steroid dehydrogenase deficiency-dental anomalies syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 139444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 - Leukoencephalopathy with bilateral anterior temporal lobe cysts - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 139447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 - Progressive cavitating leukoencephalopathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 139450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 139455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 - Autosomal recessive bestrophinopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 1574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 - Retinal degeneration-nanophthalmos-glaucoma syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 1596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 - Distal deletion 15q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 - Dentin dysplasia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 139507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 - Dietary iron overload disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 139515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 - Charcot-Marie-Tooth disease type 4J - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 139512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 - Neuropathy with hearing impairment - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 1657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 - Dermatoosteolysis, Kirghizian type - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 139525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 - Distal hereditary motor neuropathy type 2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 1658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 - Absence of fingerprints-congenital milia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 139518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 - Distal hereditary motor neuropathy type 1 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 1659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 - Dermatoleukodystrophy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 139547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 - Distal spinal muscular atrophy type 3 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 139536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 - Distal hereditary motor neuropathy type 5 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 1661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 - X-linked corneal dermoid - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 139552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 - Distal hereditary motor neuropathy, Jerash type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 139573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 - Hereditary sensory and autonomic neuropathy with deafness and global delay - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 - Sporadic fetal brain disruption sequence - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 139564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 - Hereditary sensory and autonomic neuropathy type 1B - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 139583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 - X-linked hereditary sensory and autonomic neuropathy with deafness - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 139578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 139589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 - Distal hereditary motor neuropathy type 7 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 140917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 - Stapes ankylosis with broad thumbs and toes - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547 - Cryptomicrotia-brachydactyly-excess fingertip arch syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 140922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 - Titin-related limb-girdle muscular dystrophy R10 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 1545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 - Crisponi syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - Disease - - - Disorder - - - - No data available - - - - - Autosomal recessive - - - - - 1540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 - Jackson-Weiss syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 140908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 - Brachydactyly type B2 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 140896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896 - Severe acute respiratory syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 - Gómez-López-Hernández syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 140957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 - Autosomal dominant macrothrombocytopenia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 140949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949 - Low-flow priapism - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 140936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 - Lelis syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 140941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 - Short stature due to primary acid-labile subunit deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 140933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 - Linear atrophoderma of Moulin - - Disease - - - Disorder - - - - Childhood - - - - - - - 140989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 - Primary angiitis of the central nervous system - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 140976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 - RHYNS syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - X-linked recessive - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 140966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 - Palmoplantar keratoderma, Nagashima type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 140963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 - Bilateral microtia-deafness-cleft palate syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 - Lipodystrophy due to peptidic growth factors deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 - Familial benign copper deficiency - - Disease - - - Disorder - - - - Infancy - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 140436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 - Primary intraosseous venous malformation - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 140453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 - Autosomal dominant hereditary demyelinating motor and sensory neuropathy - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 140286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140286 - Secondary hypoparathyroidism due to impaired parathormon secretion - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 140468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 - Autosomal recessive distal hereditary motor neuropathy - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 1509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 - Coxopodopatellar syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 - Crane-Heise syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 140474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 - Autosomal dominant hereditary sensory and autonomic neuropathy - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 140477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 - Autosomal recessive hereditary sensory and autonomic neuropathy - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 1506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 - Thin ribs-tubular bones-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 140456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 - Autosomal dominant hereditary axonal motor and sensory neuropathy - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 140459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 - Autosomal recessive hereditary demyelinating motor and sensory neuropathy - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 1508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 - Coxoauricular syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 140465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 - Autosomal dominant distal hereditary motor neuropathy - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 1519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 - SPECC1L-related hypertelorism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked dominant - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 - Craniodigital-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 140481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 - Autosomal dominant slowed nerve conduction velocity - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 - Non-syndromic bilambdoid and sagittal craniosynostosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 - Craniofacial-deafness-hand syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 - Craniofrontonasal dysplasia-Poland anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 - Cranio-osteoarthropathy - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969 - Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Unknown - - - - - 1968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968 - Flat face-microstomia-ear anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 - Autosomal recessive faciodigitogenital syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 - Exostoses-anetodermia-brachydactyly type E syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 - Dysplasia epiphysealis hemimelica - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 1824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 - Lowry-Wood syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 - Epiphyseal stippling-osteoclastic hyperplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 - Congenital lethal erythroderma - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Neonatal - - - - - Autosomal dominant - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927 - Emery-Nelson syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 - Eng-Strom syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 1920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 - Toluene embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 - Phenobarbital embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 - Fetal methylmercury syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 - Methimazole embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 - Fetal hydantoin syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 - Fetal minoxidil syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 - Cocaine embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 - Fetal iodine syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 - Diethylstilbestrol syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 - Fetal cytomegalovirus syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 - Vitamin K antagonist embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 - Fetal trimethadione syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 - Aminopterin/methotrexate embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 - Indomethacin embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895 - Edinburgh malformation syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 - Ectrodactyly-polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 - Focal facial dermal dysplasia type III - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 - Ectodermal dysplasia, trichoodontoonychial type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 1883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 - Jalili syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 - Melorheostosis with osteopoikilosis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 1867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 - Hereditary bullous dystrophy, macular type - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 1872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 - Cone rod dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 1871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 - Progressive cone dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 - Spondylometaphyseal dysplasia - - Clinical group - - - Group of disorders - - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 1852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852 - X-linked retinal dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 1842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 - Bone dysplasia, lethal Holmgren type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 - Hereditary mucoepithelial dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 - Metaphyseal chondrodysplasia, Rosenberg type - - Disease - - - Disorder - - - - Adolescent - - - - - - - 1836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 - Mesomelic dysplasia, Kantaputra type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 - Axial mesodermal dysplasia spectrum - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 - Multiple epiphyseal dysplasia - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 - Odontomicronychial dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 1808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 1802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 - Ghosal hematodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 - Thoracomelic dysplasia - - Disease - - - Disorder - - - - Infancy - - - - - - - 1801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 - Kyphomelic dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 - Craniofacial dysostosis-diaphyseal hyperplasia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799 - Familial developmental dysphasia - - Clinical syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 - Oculomaxillofacial dysostosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 - Non-syndromic hemimelia - - Clinical group - - - Group of disorders - - - - Neonatal - - - - - Not applicable - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 - Hernández-Aguirre Negrete syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 - Diaphragmatic defect-limb deficiency-skull defect syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Unknown - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 - Craniosynostosis, Herrmann-Opitz type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 158048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048 - Hemophagocytic syndrome associated with an infection - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 158057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057 - Acquired hemophagocytic lymphohistiocytosis associated with malignant disease - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 158061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061 - Macrophage activation syndrome - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 2107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 - Hall-Riggs syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 - Hallux varus-preaxial polysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 - Cystic hamartoma of lung and kidney - - Disease - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 2115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 - Harrod syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 - Hip dysplasia, Beukes type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994 - Short stature-craniofacial anomalies-genital hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 2123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123 - Multifocal infantile hemangioma with extracutenous involvement - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 157997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997 - Benign cephalic histiocytosis - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 157991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991 - Generalized eruptive histiocytosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091 - Multinodular goiter-cystic kidney-polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 158011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011 - Necrobiotic xanthogranuloma - - Disease - - - Disorder - - - - - - Not applicable - - - - - 158008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008 - Papular xanthoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 158003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003 - Xanthoma disseminatum - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked dominant - - - - - 158000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000 - Juvenile xanthogranuloma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 - Acromesomelic dysplasia, Grebe type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 158025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025 - Hereditary progressive mucinous histiocytosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 158022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022 - Progressive nodular histiocytosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 2095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 - Gorlin-Chaudhry-Moss syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 158019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 - Indeterminate cell histiocytosis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 158014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014 - Rosaï-Dorfman disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 2097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 - Grant syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 2101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 - Grubben-de Cock-Borghgraef syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104 - Dysmorphism-pectus carinatum-joint laxity syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 158032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032 - Hemophagocytic syndrome - - Category - - - Group of disorders - - - - Adolescent - - - Childhood - - - Infancy - - - - - - - 2069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 - Gastrocutaneous syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 157832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 - Craniorhiny - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 157835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835 - Paroxysmal hemicrania - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 157946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 - Huntington disease-like 3 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 157949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 - Combined immunodeficiency with granulomatosis - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 157973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 - Congenital muscular dystrophy due to LMNA mutation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 - Glaucoma-sleep apnea syndrome - - Disease - - - Disorder - - - - No data available - - - - - Unknown - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 - Prominent glabella-microcephaly-hypogenitalism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 2047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 - Flynn-Aird syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048 - Foix-Chavany-Marie syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064 - Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 - Frontonasal dysplasia - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 - Gingival fibromatosis-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 - Gingival fibromatosis-progressive deafness syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 - Femur-fibula-ulna complex - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 2024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 - Hereditary gingival fibromatosis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 - Endocardial fibroelastosis - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 2824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 - Paraplegia-intellectual disability-hyperkeratosis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 2045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 - FLOTCH syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 158769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 - Plaque-form urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Unknown - - - - - 2006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 - Median cleft lip/mandible - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 158766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 - Typical urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Unknown - - - - - 2007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007 - Alar cartilages hypoplasia-coloboma-telecanthus syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 - Cleft lip/palate-deafness-sacral lipoma syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 158687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic erosive disorder - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 158684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 - Epidermolysis bullosa simplex with pyloric atresia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 - Laryngotracheoesophageal cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 158681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 - Epidermolysis bullosa simplex with circinate migratory erythema - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 158676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 - Localized dystrophic epidermolysis bullosa, nails only - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 158673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 - Localized dystrophic epidermolysis bullosa, acral form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 158668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Ectodermal dysplasia-skin fragility syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 - Cleft palate-lateral synechia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017 - Sternal cleft - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 2013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 - Cleft palate-large ears-small head syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 - Cleft palate-stapes fixation-oligodontia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 158778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 - Isolated bone marrow mastocytosis - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Unknown - - - - - 158775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 - Smoldering systemic mastocytosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Unknown - - - - - 158772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 - Nodular urticaria pigmentosa - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Unknown - - - - - 2008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 - Acrocardiofacial syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 - Isolated femoral agenesis/hypoplasia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 - Cleft lip-retinopathy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 1993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 - Pai syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 247775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Antenatal - - - - - Autosomal dominant - - - Not applicable - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 - Kousseff syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 2353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 - Schilbach-Rott syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 247798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 - MUTYH-related polyposis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 247691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 2340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 - Keratosis follicularis spinulosa decalvans - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 247724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724 - Idiopathic eosinophilic myositis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 247718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718 - Inflammatory myopathy with abundant macrophages - - Disease - - - Disorder - - - - - - Not applicable - - - - - 247765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 - X-linked cerebellar ataxia - - Category - - - Group of disorders - - - - - - X-linked dominant - - - X-linked recessive - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 247762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762 - Lipoblastoma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 - Lethal Kniest-like dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 247598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 247604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 - Juvenile primary lateral sclerosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 - Isolated punctate palmoplantar keratoderma - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 2337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 - Diffuse palmoplantar keratoderma, Bothnian type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 - Keratoderma hereditarium mutilans - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 247378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 - Autosomal recessive secondary polycythemia not associated with VHL gene - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 247511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 - Autosomal dominant secondary polycythemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 247522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 247525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 - Citrullinemia type I - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 247546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 - Acute neonatal citrullinemia type I - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 247573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 - Late-onset citrullinemia type I - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 2329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 - Karsch-Neugebauer syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 247582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 - Citrin deficiency - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 2328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 - Kapur-Toriello syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 - Lowe-Kohn-Cohen syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 - Thickened earlobes-conductive deafness syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 - Dislocation of the hip-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 248408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 - Familial hypodysfibrinogenemia - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 2410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 - Hypergonadotropic hypogonadism-cataract syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 2399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 - Nasopalpebral lipoma-coloboma syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 2400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400 - Peripheral motor neuropathy-dysautonomia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 248340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 - Isolated delta-storage pool disease - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 2387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 - Leukonychia totalis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 - Leukoencephalopathy-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 248095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 - Primary hypertrophic osteoarthropathy - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 - Early-onset parkinsonism-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 2391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391 - Congenitally short costocoracoid ligament - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 - Lichtenstein syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 247834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 - Occult macular dystrophy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 - Lethal Larsen-like syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 - Limb body wall complex - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 247820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 247827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 - Laurin-Sandrow syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 247868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 - NLRP12-associated hereditary periodic fever syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 - Laryngeal abductor paralysis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 2456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2456 - Familial supernumerary nipples - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 - Mucocutaneous venous malformations - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 244283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 - Biliary atresia with splenic malformation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 2440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 - Isolated split hand-split foot malformation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 244242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 - HELLP syndrome - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 - Czeizel-Losonci syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 244275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 - De novo thrombotic microangiopathy after kidney transplantation - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 243343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 - Dimethylglycine dehydrogenase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 243367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 - Acute fatty liver of pregnancy - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 2435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 - Upper limb defect-eye and ear abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 247353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 - Generalized pustular psoriasis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - Not applicable - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 - Lower limb malformation-hypospadias syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 247257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247257 - Inhalational anthrax - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 247245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245 - Superficial siderosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 - Melorheostosis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 247239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247239 - Non-hereditary degenerative ataxia - - Category - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 247234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234 - Sporadic adult-onset ataxia of unknown etiology - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 2483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483 - Melkersson-Rosenthal syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 247203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203 - Collecting duct carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 247198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 - Progressive cerebello-cerebral atrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481 - Neurocutaneous melanocytosis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 - Melhem-Fahl syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 247165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165 - Infantile mercury poisoning - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 - Dysraphism-cleft lip/palate-limb reduction defects syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 2473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 - McKusick-Kaufman syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 - McDonough syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 - Marfanoid syndrome, De Silva type - - Malformation syndrome - - - Disorder - - - - Adult - - - Childhood - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - Not applicable - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 - Anaplastic oligodendroglioma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 251636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636 - Ependymoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 251639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639 - Subependymoma - - Disease - - - Disorder - - - - Adult - - - - - - - 251643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643 - Myxopapillary ependymoma - - Disease - - - Disorder - - - - Adolescent - - - All ages - - - Childhood - - - - - Not applicable - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646 - Anaplastic ependymoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181 - Hydrocephaly-tall stature-joint laxity syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 2180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 251663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663 - Anaplastic oligoastrocytoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Unknown - - - - - 251671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671 - Angiocentric glioma - - Disease - - - Disorder - - - - All ages - - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 251674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674 - Chordoid glioma - - Disease - - - Disorder - - - - Adult - - - - - - - 251679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679 - Astroblastoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 - Autosomal dominant epidermolytic ichthyosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 251576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576 - Gliosarcoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 251582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582 - Gliomatosis cerebri - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 251579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579 - Giant cell glioblastoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 251589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589 - Anaplastic astrocytoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 251598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598 - Protoplasmic astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - - - Not applicable - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 251595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595 - Diffuse astrocytoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 2158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 - Histidinuria-renal tubular defect syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 251612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612 - Pilocytic astrocytoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 251607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607 - Pleomorphic xanthoastrocytoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 - Holoprosencephaly-caudal dysgenesis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 251615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615 - Pilomyxoid astrocytoma - - Histopathological subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 2166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 - Holoprosencephaly-postaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 251627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 - Oligodendroglioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 - Holzgreve syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 251623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623 - Pituicytoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 251931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931 - Cerebellar liponeurocytoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 - Hypertrichosis lanuginosa congenita - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 - Hypertrichosis cubiti - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 251940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940 - Desmoplastic infantile astrocytoma/ganglioglioma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 251946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946 - Dysembryoplastic neuroepithelial tumor - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 - Hypertryptophanemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937 - Gangliocytoma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - - - 2232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 - Primary hypergonadotropic hypogonadism-partial alopecia syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 - Familial isolated hypoparathyroidism - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - No data available - - - - - Unknown - - - - - 251992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992 - Ganglioneuroma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - - - 2234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 251867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867 - Classic medulloblastoma - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - - - - - 2199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 - Epidermolytic palmoplantar keratoderma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 251863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 - Desmoplastic/nodular medulloblastoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 - Focal palmoplantar and gingival keratoderma - - Disease - - - Disorder - - - - Childhood - - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 251858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 - Medulloblastoma with extensive nodularity - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 - Transgrediens et progrediens palmoplantar keratoderma - - Disease - - - Disorder - - - - Childhood - - - - - - - 251855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855 - Anaplastic/large cell medulloblastoma - - Histopathological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 2206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 - Ankylosing vertebral hyperostosis with tylosis - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 2201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 - Palmoplantar keratoderma-spastic paralysis syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 251877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877 - Ganglioneuroblastoma - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 2202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 - Palmoplantar keratoderma-deafness syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Mitochondrial inheritance - - - - - 251870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870 - Central nervous system embryonal tumor - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Not applicable - - - - - 251899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 - Choroid plexus carcinoma - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 - Hypertelorism-hypospadias-polysyndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 251915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915 - Papillary tumor of the pineal region - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 251912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912 - Pineocytoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 2218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 251909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909 - Pineoblastoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 2215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 - Multiple pterygium-malignant hyperthermia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 - Maternal hyperthermia-induced birth defects - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038 - 3q29 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 250999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999 - 1q41q42 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 251004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004 - Paternal uniparental disomy of chromosome 1 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 251009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009 - Maternal uniparental disomy of chromosome 1 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 251014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014 - 2q31.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 - Superficial epidermolytic ichthyosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 251061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 - 7q31 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 251066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 - 8p11.2 deletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 - Ichthyosis-oral and digital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 - 8p23.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 251076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076 - 8p23.1 duplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - X-linked recessive - - - - - 251043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043 - Ring chromosome 5 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 - Neutral lipid storage disease - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 251046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046 - 6p22 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 - Congenital ichthyosis-microcephalus-tetraplegia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 251056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 - 6q25.2q25.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 - Cerebellar hypoplasia-tapetoretinal degeneration syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 250831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831 - Logopenic progressive aphasia - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 - Primary pulmonary hypoplasia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 250994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994 - 1q21.1 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 250989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989 - 1q21.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Unknown - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 251380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 - Isotretinoin-like syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 2305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 - Isotretinoin syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 251370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 - Sickle cell S-D Punjab disease - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal recessive - - - - - 251375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 - Sickle cell S-E disease - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal recessive - - - - - 251359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 - Sickle cell-beta-thalassemia disease syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 251365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 - Sickle cell S-C disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 - Familial articular hypermobility syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 - Juberg-Hayward syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - Y-linked - - - - - 251515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515 - Distal arthrogryposis type 10 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 - Absence deformity of leg-cataract syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 251393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 - Localized junctional epidermolysis bullosa - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 251295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 - Pigmented paravenous retinochoroidal atrophy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 251290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 - Parietal foramina with clavicular hypoplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 - Benign concentric annular macular dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 251282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 - Autosomal dominant spastic ataxia type 1 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 251279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 251274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 - Familial hyperaldosteronism type III - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 251262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 - Familial osteochondritis dissecans - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 - Congenital velopharyngeal incompetence - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 251332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332 - Unexplained long-lasting fever/inflammatory syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 251328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251328 - Unclassified vasculitis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 2289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 - Neuronal intranuclear inclusion disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 - Fused mandibular incisors - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 2285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 - Primary basilar invagination - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 251307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307 - Idiopathic recurrent pericarditis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 251304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304 - Infantile onset panniculitis with uveitis and systemic granulomatosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 254837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 - Unspecified mitochondrial disorder - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - X-linked recessive - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672 - Neuhauser-Eichner-Opitz syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 254857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 - Lethal infantile mitochondrial myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Mitochondrial inheritance - - - - - 2678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 - Familial isolated café-au-lait macules - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 254864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Mitochondrial inheritance - - - - - 254851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 - Mitochondrial DNA-related dystonia - - Disease - - - Disorder - - - - Childhood - - - - - Mitochondrial inheritance - - - - - 254854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 - Pure mitochondrial myopathy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Mitochondrial inheritance - - - - - 2668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 - Nephropathy-deafness-hyperparathyroidism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 254925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 - Combined oxidative phosphorylation defect type 4 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 254920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 - Combined oxidative phosphorylation defect type 2 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 - Bifid nose - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 254913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 - Isolated ATP synthase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 2698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 - Median nodule of the upper lip - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 254881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 - Spinocerebellar ataxia with epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 - Neutropenia-monocytopenia-deafness syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 - Oculoosteocutaneous syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 2718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 - Oculotrichodysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 - Urofacial syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Mitochondrial inheritance - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 - Oculodental syndrome, Rutherfurd type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 - Postaxial tetramelic oligodactyly - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 - Olivopontocerebellar atrophy-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 - Omodysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 - Odonto-onycho dysplasia-alopecia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 - Odontomatosis-aortae esophagus stenosis syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - - - 260305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 - Autosomal recessive sideroblastic anemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 252164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164 - Benign schwannoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - X-linked dominant - - - - - 252050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050 - Primary melanoma of the central nervous system - - Disease - - - Disorder - - - - Adult - - - - - - - 2743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 252054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054 - Hemangioblastoma - - Disease - - - Disorder - - - - Adult - - - - - - - 2741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741 - Ophthalmomandibulomelic dysplasia - - Malformation syndrome - - - Disorder - - - - No data available - - - - - - - 661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 - Congenital central hypoventilation syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 - Lethal omphalocele-cleft palate syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 254367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367 - Rare lichen planus - - Category - - - Group of disorders - - - - All ages - - - - - - - 2776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 - Autosomal recessive distal osteolysis syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 - Osteomesopyknosis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 254361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 - Plectin-related limb-girdle muscular dystrophy R17 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 254351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351 - Distal 7q11.23 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 - Familial osteodysplasia, Anderson type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 254346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346 - 19p13.12 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 - Carpotarsal osteochondromatosis - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 254334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 - Blount disease - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 252212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 - Malignant triton tumor - - Histopathological subtype - - - Subtype of disorder - - - - All ages - - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 252206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 - Melanoma and neural system tumor syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Unknown - - - - - 252202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 - Constitutional mismatch repair deficiency syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759 - Imperforate oropharynx-costovertebral anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 - OSLAM syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 252183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183 - Neurofibroma - - Disease - - - Disorder - - - - Adult - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 254519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 - Kagami-Ogata syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 254478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478 - Lichen planus pemphigoides - - Disease - - - Disorder - - - - All ages - - - - - - - 2789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 - Lateral meningocele syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 254492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492 - Frontal fibrosing alopecia - - Disease - - - Disorder - - - - Adult - - - - - - - 2791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 - Otodental syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 254504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504 - Inhalational botulism - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - - - 2790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 - Endosteal hyperostosis, Worth type - - Malformation syndrome - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 254509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509 - Iatrogenic botulism - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 254411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411 - Annular atrophic lichen planus - - Disease - - - Disorder - - - - Adult - - - - - - - 254424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424 - Annular lichen planus - - Disease - - - Disorder - - - - All ages - - - - - - - 2783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 - Autosomal dominant osteopetrosis type 1 - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 254449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449 - Atrophic lichen planus - - Disease - - - Disorder - - - - All ages - - - - - - - 2786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 - Osteoporosis-oculocutaneous hypopigmentation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463 - Lichen planus pigmentosus - - Disease - - - Disorder - - - - Adult - - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 2779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 254379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379 - Linear lichen planus - - Disease - - - Disorder - - - - All ages - - - - - - - 254395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395 - Actinic lichen planus - - Disease - - - Disorder - - - - All ages - - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 - Spastic paraparesis-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 254788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 - Mitochondrial DNA-related mitochondrial myopathy - - Clinical group - - - Group of disorders - - - - - - Mitochondrial inheritance - - - - - 2818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 2808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 - Laryngeal abductor paralysis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 - Familial recurrent peripheral facial palsy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 2812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 - Parana hard skin syndrome - - Disease - - - Disorder - - - - Infancy - - - - - - - 2805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 - Partial pancreatic agenesis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698 - Epithelioid trophoblastic tumor - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 254693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 - Partial hydatidiform mole - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 - Annular pancreas - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 - Papilloma of choroid plexus - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 254704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 - Genetic hyperferritinemia without iron overload - - Biological anomaly - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 254688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 - Complete hydatidiform mole - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - Not applicable - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 2491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 - Müllerian duct anomalies-limb anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 - Syndactyly type 8 - - Morphological anomaly - - - Disorder - - - - - - Autosomal dominant - - - X-linked recessive - - - - - 2499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 - Metachondromatosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 - Mesomelia-synostoses syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 - Upper limb mesomelic dysplasia, type Fryns - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 - Acrogeria - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 2501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 - Metaphyseal chondrodysplasia, Spahr type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 - Multiple benign circumferential skin creases on limbs - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 2516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 - Microcephaly-cardiac defect-lung malsegmentation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513 - Microcephaly-albinism-digital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 - Microcephaly-deafness-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536 - Microcornea-glaucoma-absent frontal sinuses syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 261911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911 - Partial deletion of the short arm of chromosome 7 syndrome - - Category - - - Group of disorders - - - - Antenatal - - - - - - - 2549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 - Oculoauriculovertebral spectrum with radial defects - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 2558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 - Mikati-Najjar-Sahli syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 - Tetramelic monodactyly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 2563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 - MOMO syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 - Mononen-Karnes-Senac syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 2574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 - Moynahan syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 - Muckle-Wells syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 - Spastic ataxia-corneal dystrophy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 - Moyamoya disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - X-linked recessive - - - - - 2570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - X-linked recessive - - - - - 2571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571 - X-linked immunoneurologic disorder - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 261183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 - 15q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 - Ataxia-pancytopenia syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 261120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120 - 14q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 261112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112 - Monosomy 9p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 261102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102 - Distal 7q11.23 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 - Mulibrey nanism - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 261236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236 - 16p13.11 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 261243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243 - 16p13.11 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 - Tubular aggregate myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 261229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 - 14q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 261204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204 - 16p11.2p12.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 2589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 - Myoclonus-cerebellar ataxia-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 261211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211 - 16p11.2p12.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 261197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 - Proximal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 261295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 - 20p12.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 261304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304 - Paternal 20q13.2q13.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 261279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 - 17q23.1q23.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 261290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290 - Trisomy 17p syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 - Microcephalic primordial dwarfism, Montreal type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 261265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 - 17q12 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 261272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272 - 17q12 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 261250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 - 16q24.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 - Nail-patella-like renal disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 261257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 - Distal 17p13.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 261344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344 - Trisomy 1q syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 261337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337 - Distal 22q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 261349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349 - 2p15p16.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 261318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318 - Trisomy 20p syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 261311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311 - 20q13.33 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 2623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 - Geleophysic dysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 261330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 - Distal 22q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 261524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524 - Paternal uniparental disomy of chromosome X syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 261519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519 - Maternal uniparental disomy of chromosome X syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 261534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534 - 49,XXXYY syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 261529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529 - Ring chromosome Y syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 261494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 - Kleefstra syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 261483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 - Xq27.3q28 duplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 2632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 - Langer mesomelic dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 2633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 - Mesomelic dysplasia, Nievergelt type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 261501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501 - Atypical Norrie disease due to Xp11.3 microdeletion - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 2634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 261652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 - Kleefstra syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 264200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 - 14q22q23 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 263665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665 - NK-cell enteropathy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 3035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 - Growth delay-hydrocephaly-lung hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - - - 263662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 - Familial multiple meningioma - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 - Delayed membranous cranial ossification - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 263548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 - Peeling skin syndrome type A - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 - Renal tubular dysgenesis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - Not applicable - - - - - 263553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 - Peeling skin syndrome type B - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 263534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 - Acral peeling skin syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 - Generalized peeling skin syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 263524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 - Acute necrotizing encephalopathy of childhood - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 - Radial ray hypoplasia-choanal atresia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479 - Fuchs heterochromic iridocyclitis - - Disease - - - Disorder - - - - Adult - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 263458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 - Hyperinsulinism due to INSR deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 - Osteosclerotic bone dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018 - Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 263432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432 - Nevus of Ito - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 263425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425 - Nevus of Ota - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 263435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435 - Congenital smooth muscle hamartoma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 - Absent radius-anogenital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 - Rabson-Mendenhall syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413 - Angiosarcoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 3003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 - Pyknoachondrogenesis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 263335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335 - Moderately-differentiated thymic neuroendocrine carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 263339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339 - Poorly differentiated thymic neuroendocrine carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 3005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 - Pyle disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 - MRCS syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 263352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352 - Postcardiotomy right ventricular failure - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 263310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310 - Thymoma type A - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 - Ptosis-vocal cord paralysis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 263317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317 - Thymoma type B - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 263324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324 - Thymoma type AB - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 263331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331 - Well-differentiated thymic neuroendocrine carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 2990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 - Autosomal recessive multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 - Antecubital pterygium syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 - Pseudoprogeria syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989 - Familial pterygium of the conjunctiva - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 2988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 - Pterygium colli-intellectual disability-digital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145 - Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome - - Disease - - - Disorder - - - - Infancy - - - - - - - 3143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 - Autoimmune polyendocrinopathy type 2 - - Disease - - - Disorder - - - - Adult - - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 3132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 - Say-Barber-Miller syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 3130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 - Satoyoshi syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 - Ruvalcaba syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 - Rombo syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 3115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 - Roussy-Lévy syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 - Robin sequence-oligodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Antenatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 - Revesz syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 - Rhizomelic syndrome, Urbach type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 - X-linked intellectual disability-psychosis-macroorchidism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 3080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 - Intellectual disability, Wolff type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 - Intellectual disability, Buenos-Aires type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 3068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 268861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 - Primary tethered cord syndrome - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 - Piebald trait-neurologic defects syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - - - 2884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 - Piebaldism - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 - Cutaneous photosensitivity-lethal colitis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 - Phocomelia, Schinzel type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 268882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 - Arnold-Chiari malformation type I - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 - Pilodental dysplasia-refractive errors syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 - Pili torti-developmental delay-neurological abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 2889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 - Pili torti - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 - Pili torti-onychodysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 268865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 - Neurenteric cyst - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 - Pierre Robin syndrome-faciodigital anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 268868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 - Isolated amyelia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 - Short stature-webbed neck-heart disease syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 - Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 - Short stature-wormian bones-dextrocardia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 268744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 - Spinal dysraphism with a posterior meningocele - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 - Phakomatosis pigmentovascularis - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 268823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 - Occipital encephalocele - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 2876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876 - PHAVER syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 268820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 - Cranial meningocele - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 - Pfeiffer-Palm-Teller syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 2867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 - Short stature, Brussels type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868 - Short stature-valvular heart disease-characteristic facies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 - Congenital pericardium anomaly - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 2842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 - Penoscrotal transposition - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 2848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848 - Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 - Pericardial and diaphragmatic defect - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 2838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 - Renal caliceal diverticuli-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 268322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 - Hereditary thrombocytopenia with normal platelets - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 2840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 - Pelvis-shoulder dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 268337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 - Autosomal recessive intermediate Charcot-Marie-Tooth disease - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 268363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 - Open iniencephaly - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 268366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 - Closed iniencephaly - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 - Alopecia-intellectual disability syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 268369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 - Open spinal dysraphism - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 268114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 - RAS-associated autoimmune leukoproliferative disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 2825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 - PARC syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826 - Spastic paraplegia-precocious puberty syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 268139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139 - Intraocular medulloepithelioma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 268129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 - Spheroid body myopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 2819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819 - Spastic paraplegia-facial-cutaneous lesions syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - Clinical syndrome - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 2821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821 - Spastic paraplegia-neuropathy-poikiloderma syndrome - - Disease - - - Disorder - - - - Childhood - - - - - - - 2822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 - Autosomal recessive spastic paraplegia type 11 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 268249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249 - Mycophenolate mofetil embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 268316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316 - Complication in hemodialysis - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832 - Short tarsus-absence of lower eyelashes syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 2833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 - Stiff skin syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964 - Autosomal dominant prognathism - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 - Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - No data available - - - - - 750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 - Pseudoachondroplasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976 - Pseudoleprechaunism syndrome, Patterson type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Unknown - - - - - 2980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 - Acrootoocular syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 - Chronic intestinal pseudoobstruction syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 - Renal agenesis, bilateral - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 2951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951 - Absent thumb-short stature-immunodeficiency syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 2947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 - Triphalangeal thumbs-brachyectrodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 264978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978 - Drug or radiation exposure-related interstitial lung disease - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 - Adducted thumbs-arthrogryposis syndrome, Christian type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 - Progeria-short stature-pigmented nevi syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 2924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 - Isolated polycystic liver disease - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 2926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926 - Digital extensor muscle aplasia-polyneuropathy - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - - - 2930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 - Cronkhite-Canada syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 2935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 - Crossed polysyndactyly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 2934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934 - Polysyndactyly-cardiac malformation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 - Porencephaly-cerebellar hypoplasia-internal malformations syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 - Porencephaly - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 - Leri pleonosteosis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 - POEMS syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Unknown - - - - - 264450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450 - Trisomy 8p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 2907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 - Hereditary acrokeratotic poikiloderma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 2911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 - Poland syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - Not applicable - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - X-linked recessive - - - - - 2916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 - Postaxial polydactyly-dental and vertebral anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 - Polydactyly-myopia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 264675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 - Hereditary pulmonary alveolar proteinosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal recessive - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 264691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691 - Isolated pulmonary capillaritis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 - Preaxial polydactyly-colobomata-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 264688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688 - Congenital chylothorax - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 3374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374 - Unilateral ocular duplication - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 275803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803 - Pulmonary arterial hypertension associated with congenital heart disease - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 275808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808 - Pulmonary arterial hypertension associated with HIV infection - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 275813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813 - Pulmonary arterial hypertension associated with portal hypertension - - Clinical group - - - Group of disorders - - - - Adult - - - - - No data available - - - - - 1717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717 - Distal duplication 19q syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 - Trismus-pseudocamptodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 275823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823 - Pulmonary arterial hypertension associated with schistosomiasis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 3368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368 - Trigonocephaly-bifid nose-acral anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 275777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 - Heritable pulmonary arterial hypertension - - Etiological subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 275786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 - Drug- or toxin-induced pulmonary arterial hypertension - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 275791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791 - Pulmonary arterial hypertension associated with another disease - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Unknown - - - - - 275798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 - Pulmonary arterial hypertension associated with connective tissue disease - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 - Trigonocephaly-broad thumbs syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 275766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 - Idiopathic pulmonary arterial hypertension - - Etiological subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 3361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 - Trichodysplasia-xeroderma syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 - Upington disease - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 276148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 - Benign epithelial tumor of salivary glands - - Disease - - - Disorder - - - - - - Not applicable - - - - - 3409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 - Urban-Rogers-Meyer syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 276145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 - Malignant epithelial tumor of salivary glands - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 276161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 - Multiple endocrine neoplasia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 276152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 - Multiple endocrine neoplasia type 4 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 3403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403 - Uhl anomaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 276066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 - Bile acid CoA ligase deficiency and defective amidation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 3383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 - Humerus trochlea aplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 - Common arterial trunk - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 275944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944 - Hemolytic disease of the newborn with Kell alloimmunization - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 - Isolated anterior cervical hypertrichosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723 - Mosaic trisomy 2 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 275828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828 - Pulmonary arterial hypertension associated with chronic hemolytic anemia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 1724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 - Mosaic trisomy 20 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747 - Mosaic trisomy 7 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 3327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 - Thyrocerebrorenal syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 - Thymic-renal-anal-lung dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 - Thiemann disease, familial form - - Disease - - - Disorder - - - - Adolescent - - - - - Not applicable - - - - - 3355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 - Trichoodontoonychial dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 275555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555 - Preeclampsia - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 275543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 - L1 syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 3353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 - Trichodermodysplasia-dental alterations syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 275523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 - Dianzani autoimmune lymphoproliferative disease - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 275517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 - Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350 - Tremor-nystagmus-duodenal ulcer syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 3344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 - Weismann-Netter syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347 - Mounier-Kühn syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 - Torticollis-keloids-cryptorchidism-renal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 3339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 - Oculoectodermal syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 271861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 - Hereditary ATTR amyloidosis - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 - XK aprosencephaly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 - Young syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 3319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 - Congenital amegakaryocytic thrombocytopenia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - X-linked recessive - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 3466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 - WT limb-blood syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465 - Worster-Drought syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 2749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 - Oromandibular-limb hypogenesis syndrome - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 - Arthrogryposis-ectodermal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 1570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 - Symbrachydactyly of hands and feet - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 - Sweet syndrome - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 2076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 - X-linked intellectual disability-epilepsy syndrome - - Clinical group - - - Group of disorders - - - - Childhood - - - - - X-linked dominant - - - X-linked recessive - - - - - 3424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 - Velo-facial-skeletal syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - Histopathological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - Histopathological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 - Verloove Vanhorick-Brubakk syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - Histopathological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked dominant - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 - Hyperostosis corticalis generalisata - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 268936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 - Isolated arhinencephaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - X-linked recessive - - - - - 269229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 - Pontine tegmental cap dysplasia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 3448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 - Weaver-Williams syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 269221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 - Isolated bilateral hemispheric cerebellar hypoplasia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 269218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 - Isolated unilateral hemispheric cerebellar hypoplasia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 - Wildervanck syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 269510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 - Congenital non-communicating hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - X-linked recessive - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 269505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 - Congenital communicating hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 269203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 - Isolated cerebellar vermis agenesis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 269197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 - Glioependymal/ependymal cyst - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 269215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 - Isolated Dandy-Walker malformation without hydrocephalus - - Clinical subtype - - - Subtype of disorder - - - - - - Multigenic/multifactorial - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315 - Autoimmune pancreatitis type 2 - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 3181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181 - Sprengel deformity - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 280302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302 - Autoimmune pancreatitis type 1 - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 280325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 - Distal deletion 12p syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 280293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 - Corneodermatoosseous syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - Disease - - - Disorder - - - - Adult - - - - - Semi-dominant - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 - Stimmler syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 - Steatocystoma multiplex-natal teeth syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 - Familial omphalocele syndrome with facial dysmorphism - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 280384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 - Familial Alzheimer-like prion disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 - Fountain syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 280586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 - Chondrodysplasia with joint dislocations, gPAPP type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 - Deafness-small bowel diverticulosis-neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 - Warsaw breakage syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216 - Conductive deafness-malformed external ear syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 3218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 - Deafness-epiphyseal dysplasia-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062 - Calciphylaxis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 279947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947 - Postorgasmic illness syndrome - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 279943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 - Hereditary neutrophilia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 - Sclerosteosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 279925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279925 - Infectious panuveitis - - Disease - - - Disorder - - - - All ages - - - - - - - 279922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922 - Infectious anterior uveitis - - Disease - - - Disorder - - - - All ages - - - - - - - 280142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 - Severe combined immunodeficiency due to LCK deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 - Sillence syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 - Complement component 3 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 3156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 - Senior-Loken syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - Not applicable - - - - - 3180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 - Spondylocamptodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 280200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 - Microform holoprosencephaly - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 3175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 3172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 - Eyebrow duplication-syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - Biological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 - Pelizaeus-Merzbacher-like disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - X-linked recessive - - - - - 1855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 - Spondyloenchondrodysplasia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 1797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 - Autosomal dominant spondylocostal dysostosis - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - X-linked recessive - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 - Cenani-Lenz syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262 - Dobrow syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 276608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608 - Non-insulinoma pancreatogenous hypoglycemia syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 3265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 - Isolated humero-radial synostosis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 - Isolated humero-radio-ulnar synostosis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 276621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621 - Sporadic pheochromocytoma/secreting paraganglioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 3268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 - Radioulnar synostosis-microcephaly-scoliosis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 - Teebi-Shaltout syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 3292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 - Tel Hashomer camptodactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 279882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882 - Spasmus nutans - - Clinical syndrome - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 3294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294 - Extensor tendons of finger anomalies - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 279888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888 - Acute endophthalmitis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 279891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891 - Chronic endophthalmitis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 279894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894 - Toxic maculopathy due to antimalarial drugs - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 279897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 - Primary oculocerebral lymphoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 279904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904 - Primary intraocular lymphoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 3304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 - Fallot complex-intellectual disability-growth delay syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 - Thalidomide embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 279914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914 - Intermediate uveitis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 279919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279919 - Infectious posterior uveitis - - Disease - - - Disorder - - - - All ages - - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 3225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 - Hearing loss-familial salivary gland insensitivity to aldosterone syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 276174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174 - Idiopathic recurrent stupor - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 276234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 - Non-syndromic male infertility due to sperm motility disorder - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 3230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 - Deafness-oligodontia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - - - 3235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 - Progressive deafness with stapes fixation - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 - Conductive deafness-ptosis-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - - - 3232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 - Deafness-ear malformation-facial palsy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 - Cochleosaccular degeneration-cataract syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - - - 3241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 - Deafness-craniofacial syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 276399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 - Familial multinodular goiter - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 3239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 - Deafness-vitiligo-achalasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 - Cardiospondylocarpofacial syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 276413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413 - 10q22.3q23.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 3242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 - Renpenning syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 276405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 - Hyperbiliverdinemia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 - Proximal symphalangism - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 - Isolated distal symphalangism - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 276422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422 - 10q22.3q23.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 276429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429 - Hypnic headache - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - X-linked recessive - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 276435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 - Lower motor neuron syndrome with late-adult onset - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 - Combined immunodeficiency due to ZAP70 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325 - Classic heparin-induced thrombocytopenia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 - Malonic aciduria - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 - Hereditary methemoglobinemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 - Glycogen storage disease due to hepatic glycogen synthase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 - Familial hyperthyroidism due to mutations in TSH receptor - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 - Congenital factor II deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 - Immunodeficiency by defective expression of MHC class II - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 - Herpes simplex virus encephalitis - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 - Essential fructosuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 - Sneddon syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - Group of disorders - - - - All ages - - - - - X-linked recessive - - - - - 1945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Self-limited epilepsy with centrotemporal spikes - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 6 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 - 3-methylcrotonyl-CoA carboxylase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 - Rhizomelic dysplasia, Patterson-Lowry type - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 1129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - Disorder - - - - Adult - - - - - X-linked recessive - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 206538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538 - Malignant non-dysgerminomatous germ cell tumor of ovary - - Disease - - - Disorder - - - - Adolescent - - - - - Unknown - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 1524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 - Craniomicromelic syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 206549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 1123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 - Caudal appendage-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 206572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572 - Overlap myositis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 3263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 - Syngnathia-cleft palate syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 206569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569 - Immune-mediated necrotizing myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 206580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 - Autosomal recessive lower motor neuron disease with childhood onset - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 206575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206575 - Rippling muscle disease with myasthenia gravis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 3439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439 - Von Voss-Cherstvoy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 206470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470 - Cystadenoma of childhood - - Disease - - - Disorder - - - - Childhood - - - - - - - 1217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 - Spinal atrophy-ophthalmoplegia-pyramidal syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 2680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 - Hypomyelination neuropathy-arthrogryposis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 206484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484 - Gonadoblastoma - - Disease - - - Disorder - - - - Adolescent - - - - - - - 1681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681 - Diprosopus - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - No data available - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 - Laron syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 - Kallmann syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - X-linked recessive - - - - - 822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 - Hereditary spherocytosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 - Familial aortic dissection - - Disease - - - Disorder - - - - All ages - - - - - - - 777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 - X-linked non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 206594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594 - Subacute inflammatory demyelinating polyneuropathy - - Disease - - - Disorder - - - - All ages - - - - - - - 206599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 - Isolated asymptomatic elevation of creatine phosphokinase - - Biological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 - Stüve-Wiedemann syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 206653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 - Autosomal recessive distal myopathy - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 206650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 - Autosomal dominant distal myopathy - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Oligogenic - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - X-linked dominant - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 - Arachnodactyly-intellectual disability-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 3207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 - Fryns-Smeets-Thiry syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 2538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 - Microgastria-limb reduction defect syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 - Progressive non-infectious anterior vertebral fusion - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 - Cleft palate-short stature-vertebral anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 - Macrocephaly-short stature-paraplegia syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Unknown - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 206997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206997 - Parasitic myositis - - Category - - - Group of disorders - - - - All ages - - - - - - - 206994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206994 - Bacterial myositis - - Disease - - - Disorder - - - - All ages - - - - - - - 2349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 - Muscular pseudohypertrophy-hypothyroidism syndrome - - Disease - - - Disorder - - - - Childhood - - - - - - - 207000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207000 - Fungal myositis - - Disease - - - Disorder - - - - All ages - - - - - - - 1423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 - Lethal recessive chondrodysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 206991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206991 - Viral myositis - - Disease - - - Disorder - - - - All ages - - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 209004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209004 - Polyneuropathy associated with IgM monoclonal gammopathy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 - Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 - Hydrocephaly-low insertion umbilicus syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 208650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 - NLRP3-associated autoinflammatory disease - - Clinical group - - - Group of disorders - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 1779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 - Dysmorphism-cleft palate-loose skin syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485 - Arthrogryposis-hyperkeratosis syndrome, lethal form - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 208508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 - Autosomal dominant cerebellar ataxia type II - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 - Nicolaides-Baraitser syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 - Isolated arrhinia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 - Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - - - - - 2963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 - Progeroid syndrome, Petty type - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 2619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 - Brachydactylous dwarfism, Mseleni type - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 1541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 - Craniosynostosis, Boston type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked dominant - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 209335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 - Autosomal dominant adult-onset proximal spinal muscular atrophy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 209341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - Subtype of disorder - - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 - Siegler-Brewer-Carey syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 1778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 - Intellectual disability-short stature-hypertelorism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 1759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 - Thoraco-abdominal enteric duplication - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 210110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 - Intermediate osteopetrosis - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 3405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 - Umbilical cord ulceration-intestinal atresia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Unknown - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 209981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 - IRIDA syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459 - Celiac disease-epilepsy-cerebral calcification syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 210133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 - Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 210136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136 - Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 2582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582 - Myalgia-eosinophilia syndrome associated with tryptophan - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 210122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 - Congenital alveolar capillary dysplasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 209959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959 - Phacoanaphylactic uveitis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 209964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964 - Solitary rectal ulcer syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 209951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 - Autosomal spastic paraplegia type 18 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 209956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956 - Idiopathic uveal effusion syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 209973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 - Benign nocturnal alternating hemiplegia of childhood - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 209967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 - Episodic ataxia type 6 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 209970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 - Episodic ataxia type 7 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 2795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795 - Fowler urethral sphincter dysfunction syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Unknown - - - - - 209908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 - Isolated childhood apraxia of speech - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - Disorder - - - - Adult - - - - - Semi-dominant - - - - - 2666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 - Adult familial nephronophthisis-spastic quadriparesia syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 209943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 - IRVAN syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 209932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 - Cone dystrophy with supernormal rod response - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 209919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919 - Idiopathic copper-associated cirrhosis - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 209916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916 - Extraskeletal myxoid chondrosarcoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 209370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 - MECP2-related severe neonatal encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 209867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 - Autosomal dominant rhegmatogenous retinal detachment - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 210571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 - Dystonia 16 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 3286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 - Catecholaminergic polymorphic ventricular tachycardia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 210272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272 - Mal de débarquement - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 210159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 - Adult hepatocellular carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 3283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 - His bundle tachycardia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - Disease - - - Disorder - - - - No data available - - - - - Autosomal recessive - - - - - 210141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 - Inherited congenital spastic tetraplegia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Unknown - - - - - 210144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 - Lethal polymalformative syndrome, Boissel type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1546 - Cryptococcosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 67 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67 - Amoebiasis due to Entamoeba histolytica - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 210584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584 - Spindle cell hemangioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023 - Undifferentiated pleomorphic sarcoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 - Primary hyperoxaluria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 - Distal myopathy - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3392 - Tularemia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 - Tufted angioma - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737 - Onchocerciasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 211067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 - Episodic ataxia type 5 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 3343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343 - Toxocariasis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 2034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2034 - Filariasis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 2583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2583 - Mycetoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 211037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 - Autosomal dominant proximal spinal muscular atrophy - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 1685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1685 - Distomatosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 1902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1902 - Ehrlichiosis - - Disease - - - Disorder - - - - All ages - - - - - - - 656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 - Hereditary steroid-resistant nephrotic syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 - Nephronophthisis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415 - Rare lymphatic malformation - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 2122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 - Kaposiform hemangioendothelioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 35 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 - Propionic acidemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 - Leukocyte adhesion deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Mitochondrial inheritance - - - Not applicable - - - - - 137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 - Congenital disorder of glycosylation - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 85 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 - Congenital dyserythropoietic anemia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 - Familial melanoma - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359 - Pediatric-onset glaucoma of genetic origin - - Category - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 - Glycogen storage disease due to lactate dehydrogenase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 213512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512 - Malignant mixed Müllerian tumor of the ovary - - Disease - - - Disorder - - - - Adult - - - - - - - 213504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 - Adenocarcinoma of ovary - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 - Cutis laxa - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 42 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 - Medium chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 213557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557 - Salivary gland type cancer of the breast - - Disease - - - Disorder - - - - Adult - - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 - Bifunctional enzyme deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 213531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531 - Metaplastic carcinoma of the breast - - Disease - - - Disorder - - - - Adult - - - - - - - 213528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528 - Rare adenocarcinoma of the breast - - Disease - - - Disorder - - - - Adult - - - - - - - 3188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 - Congenital pulmonary veins atresia or stenosis - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Not applicable - - - - - 3161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 - Congenital pulmonary sequestration - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 - Congenitally uncorrected transposition of the great arteries - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 - Congenital pulmonary valvar stenosis - - Morphological anomaly - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 1464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 - Univentricular heart - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 - Aorto-ventricular tunnel - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 213716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716 - Squamous cell carcinoma of the corpus uteri - - Disease - - - Disorder - - - - Adult - - - - - - - 213746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746 - Transitional cell carcinoma of the corpus uteri - - Disease - - - Disorder - - - - Adult - - - - - - - 3261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 - Autoimmune lymphoproliferative syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 213772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772 - Adenocarcinoma of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 213767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767 - Squamous cell carcinoma of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - - - - - 213751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751 - Malignant germ cell tumor of the corpus uteri - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 213792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792 - Adenosarcoma of the cervix uteri - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 213787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787 - Carcinosarcoma of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 213777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777 - High-grade neuroendocrine carcinoma of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 213812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812 - Primitive neuroectodermal tumor of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - - - - - 747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 - Autoimmune pulmonary alveolar proteinosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 213807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807 - Leiomyosarcoma of the cervix uteri - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 213802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802 - Rhabdomyosarcoma of the cervix uteri - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 - Intellectual disability-polydactyly-uncombable hair syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 - Isolated radio-ulnar synostosis - - Morphological anomaly - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 3259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 - Syndactyly-polydactyly-ear lobe syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 3309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 - Tetrasomy 5p syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 216675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 - Transposition of the great arteries - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 3379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379 - Distal duplication 17q syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 216694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 - Congenitally corrected transposition of the great arteries - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 216718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 - Isolated congenitally uncorrected transposition of the great arteries - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 216729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 3411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 - Double uterus-hemivagina-renal agenesis syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 - Von Willebrand disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 216828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 - Osteogenesis imperfecta type 5 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 1441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441 - Ring chromosome 17 syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Not applicable - - - Unknown - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 - Familial glucocorticoid deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 - Acrofacial dysostosis, Palagonia type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 217008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 - Bockenheimer syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Neonatal - - - - - Not applicable - - - - - 217017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 - Zechi-Ceide syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 217026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179 - Birdshot chorioretinopathy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Unknown - - - - - 217260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260 - Progressive multifocal leukoencephalopathy - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292 - Congenital enterovirus infection - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 217253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253 - NMDA receptor encephalitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 - Polyarteritis nodosa - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 - Classic mycosis fungoides - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - X-linked recessive - - - - - 3162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 - Sézary syndrome - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - X-linked recessive - - - - - 217080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080 - Pulmonary fungal infections in patients deemed at risk - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 217074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074 - Rare carcinoma of pancreas - - Category - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 2330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330 - Kasabach-Merritt phenomenon - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 217071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071 - Renal cell carcinoma - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 217067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067 - Pouchitis - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2700 - Noma - - Disease - - - Disorder - - - - Childhood - - - - - - - 217064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217064 - 5-fluorouracil poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 217059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 - Isolated nail clubbing - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 217055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556 - Malakoplakia - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 217340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 - 17q21.31 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 3260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 - Idiopathic hypereosinophilic syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 217330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 2086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086 - Optic pathway glioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2566 - Chronic Epstein-Barr virus infection syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Unknown - - - - - 3385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3385 - African trypanosomiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1560 - Cysticercosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=341 - Viral hemorrhagic fever - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340 - Hemorrhagic fever-renal syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2552 - Microsporidiosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Mitochondrial inheritance - - - - - 217560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560 - Neuroendocrine cell hyperplasia of infancy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 217557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557 - Pulmonary interstitial glycogenosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 1686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 - Cardiac diverticulum - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 217566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 - Chronic respiratory distress with surfactant metabolism deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 217563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 - Neonatal acute respiratory distress syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 217407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 - Hereditary hypotrichosis with recurrent skin vesicles - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 - Middle aortic syndrome - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 217467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 1457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 - Aorta coarctation - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 217390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 - Combined immunodeficiency due to DOCK8 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 - Aortic arch defects - - Category - - - Group of disorders - - - - Childhood - - - - - Not applicable - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 217399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399 - Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 217346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 - 19q13.11 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 - Absence of the pulmonary artery - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 1054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 - Aneurysm of sinus of Valsalva - - Morphological anomaly - - - Disorder - - - - Adult - - - - - Unknown - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - X-linked dominant - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 217622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 - Sensorineural deafness with dilated cardiomyopathy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 3092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 - Fixed subaortic stenosis - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - No data available - - - - - 217604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217604 - Dilated cardiomyopathy - - Category - - - Group of disorders - - - - All ages - - - - - - - 2299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 - Aortic arch interruption - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 - Double outlet left ventricle - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 3426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 - Double outlet right ventricle - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 - Isolated right ventricular hypoplasia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 - Idiopathic/heritable pulmonary arterial hypertension - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 2038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 - Pulmonary arteriovenous malformation - - Morphological anomaly - - - Disorder - - - - Infancy - - - - - Multigenic/multifactorial - - - Unknown - - - - - 2041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 - Coronary arterial fistula - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 - Frontotemporal dementia - - Clinical group - - - Group of disorders - - - - Adult - - - - - Autosomal dominant - - - - - 331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 - Congenital factor XIII deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707 - Plague - - Disease - - - Disorder - - - - All ages - - - - - - - 335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 - Congenital fibrinogen deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 79 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 - Congenital alpha2-antiplasmin deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 217656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 - Inherited isolated arrhythmogenic cardiomyopathy - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 1070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070 - Anisakiasis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 1467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467 - Cogan syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 2157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 - Histidinemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 220402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 - Limited cutaneous systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 3124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 - Saccharopinuria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 220407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 - Limited systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 - Hyperlysinemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 220393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 - Diffuse cutaneous systemic sclerosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - Not applicable - - - - - 220448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 - Macrothrombocytopenia with mitral valve insufficiency - - Disease - - - Disorder - - - - Childhood - - - - - - - 2967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 - Transcobalamin I deficiency - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 220436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 - Quebec platelet disorder - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 2195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 - Dicarboxylic aminoaciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal recessive - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 3402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 - Transient tyrosinemia of the newborn - - Disease - - - Disorder - - - - Neonatal - - - - - - - 2880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 - Phosphoenolpyruvate carboxykinase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - - - 941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 - D-glyceric aciduria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 220489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 - Rare hereditary hemochromatosis - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 - Cystathioninuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 - Lysinuric protein intolerance - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 221074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074 - Marchiafava-Bignami disease - - Disease - - - Disorder - - - - Adult - - - - - - - 145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 - Hereditary breast and/or ovarian cancer syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 2965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 - Prolactinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 221091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091 - Trigeminal neuralgia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 - Lymphangioleiomyomatosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 221098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098 - Glossopharyngeal neuralgia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 2942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942 - Postpoliomyelitis syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 221039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 - Hereditary sclerosing poikiloderma, Weary type - - Disease - - - Disorder - - - - Childhood - - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - - - 851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 - Paris-Trousseau thrombocytopenia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 221046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 - Poikiloderma with neutropenia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 221054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 - Acrocephalopolydactyly - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 - Glanzmann thrombasthenia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - - - 225123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 - TFR2-related hemochromatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 225147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 - Sporadic infantile bilateral striatal necrosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 221120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 - Pseudoaminopterin syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 221126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 - Fowler vasculopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - Disorder - - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 221142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142 - Confetti-like macular atrophy - - Disease - - - Disorder - - - - Adult - - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 228003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 - Severe combined immunodeficiency due to CORO1A deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3398 - Thymic epithelial neoplasm - - Category - - - Group of disorders - - - - Adult - - - - - Autosomal recessive - - - Not applicable - - - - - 228000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 - Idiopathic CD4 lymphocytopenia - - Biological anomaly - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547 - Non-Hodgkin lymphoma - - Category - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 227990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227990 - Autoimmune polyendocrinopathy type 4 - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 - Testicular seminomatous germ cell tumor - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 227982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982 - Autoimmune polyendocrinopathy type 3 - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876 - Yolk sac tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 227972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227972 - Toxic oil syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 227796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 - Fundus albipunctatus - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 228123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123 - Coccidioidomycosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228119 - Fusariosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116 - Hughes-Stovin syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113 - Anal fistula - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 - Langerhans cell histiocytosis - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616 - Medulloblastoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301 - Ependymal tumor - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 - Primary cutaneous CD30+ T-cell lymphoproliferative disease - - Clinical group - - - Group of disorders - - - - Adult - - - - - - - 543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 - Burkitt lymphoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319 - Skeletal Ewing sarcoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 227535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 - Hereditary breast cancer - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 - Osteosarcoma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 227510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 - Multiple system atrophy, cerebellar type - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 94 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94 - Astrocytoma - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360 - Glioblastoma - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 226292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 - Permanent congenital hypothyroidism - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513 - Acute lymphoblastic leukemia - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 1957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957 - Esthesioneuroblastoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 2030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030 - Fibrosarcoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126 - Solitary fibrous tumor - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 1501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501 - Adrenocortical carcinoma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 226316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 - Genetic transient congenital hypothyroidism - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 226307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148 - Malignant peripheral nerve sheath tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 3273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273 - Synovial sarcoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 226313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313 - Congenital hypothyroidism due to maternal intake of antithyroid drugs - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391 - Classic Hodgkin lymphoma - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 2260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 - Oligomeganephronia - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 2542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 - Isolated microphthalmia-anophthalmia-coloboma - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 3280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280 - Syringomyelia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 2478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 - Megalencephalic leukoencephalopathy with subcortical cysts - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 3337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 - Primary Fanconi renotubular syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 - Arginine vasopressin resistance - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 - Pseudohypoaldosteronism type 2 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 228423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 - GATA2 deficiency spectrum - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 - Chronic myeloid leukemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 228415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 - 5q35 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Not applicable - - - Unknown - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 - Autosomal recessive cerebellar ataxia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 229717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717 - Non-syndromic agammaglobulinemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 - Isolated Klippel-Feil syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 - Familial pancreatic carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Multigenic/multifactorial - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 228387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 228399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 - 8q12 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 2781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 - Osteopetrosis and related disorders - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 228379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379 - Virus-associated trichodysplasia spinulosa - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 - Charcot-Marie-Tooth disease type 2B5 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 228371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371 - Foodborne botulism - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - Disorder - - - - Adult - - - Antenatal - - - Infancy - - - - - Autosomal recessive - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 228290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290 - White fibrous papulosis of the neck - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293 - Pseudoxanthoma elasticum-like papillary dermal elastolysis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299 - Mid-dermal elastolysis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 228312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312 - Autoimmune hemolytic anemia, cold type - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - - - 228240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240 - Elastoderma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 - CACH syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 228243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243 - Elastofibroma dorsi - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247 - Acquired pseudoxanthoma elasticum - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254 - Elastoma - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 228264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264 - Papular elastorrhexis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272 - Primary anetoderma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 - Familial anetoderma - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 228285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285 - Acquired cutis laxa - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 - Overhydrated hereditary stomatocytosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 - Dehydrated hereditary stomatocytosis - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 228236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236 - Linear focal elastosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 228227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227 - Late-onset focal dermal elastosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 228140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 - Idiopathic ventricular fibrillation - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked dominant - - - - - 228165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165 - Baló concentric sclerosis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 228157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157 - Marburg acute multiple sclerosis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 - Congenital factor X deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 228174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 228169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 - Autosomal dominant striatal neurodegeneration - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 2132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 - Hemoglobin C disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 2133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 - Hemoglobin E disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 228179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 - Hereditary elliptocytosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320 - Idiopathic camptocormia - - Morphological anomaly - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 - Early-onset generalized limb-onset dystonia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 - Pure autonomic failure - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 231457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457 - Acute pandysautonomia - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 231466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466 - Acute sensory ataxic neuropathy - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 1576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 - Infantile bilateral striatal necrosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - Not applicable - - - - - 231445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445 - Paraparetic variant of Guillain-Barré syndrome - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 231450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450 - Acute pure sensory neuropathy - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 2073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073 - Narcolepsy type 1 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Unknown - - - - - 231426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426 - Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 231416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231416 - Regional variant of Guillain-Barré syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 231419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231419 - Functional variant of Guillain-Barré syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 231401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 - Alpha-thalassemia-myelodysplastic syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 231413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231413 - Variant of Guillain-Barré syndrome - - Category - - - Group of disorders - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 1866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 - Focal, segmental or multifocal dystonia - - Category - - - Group of disorders - - - - Adult - - - - - Autosomal dominant - - - - - 2611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611 - Linear verrucous nevus syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 231393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 - Beta-thalassemia-X-linked thrombocytopenia syndrome - - Disease - - - Disorder - - - - No data available - - - - - X-linked recessive - - - - - 809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 - Mixed connective tissue disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Multigenic/multifactorial - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - Morphological anomaly - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 231249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 - Hemoglobin E-beta-thalassemia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 231242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 - Hemoglobin C-beta-thalassemia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 2197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 - Idiopathic hypercalciuria - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 231237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 - Delta-beta-thalassemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 - Beta-thalassemia associated with another hemoglobin anomaly - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 231226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 - Dominant beta-thalassemia - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 18 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 - Distal renal tubular acidosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 231222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 - Beta-thalassemia intermedia - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160 - Castleman disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 - Beta-thalassemia major - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 - Hailey-Hailey disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 231183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 - Usher syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 231178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 - Usher syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - Disease - - - Disorder - - - - Infancy - - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Mitochondrial inheritance - - - - - 231154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 - Combined immunodeficiency due to partial RAG1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 2966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 - Properdin deficiency - - Disease - - - Disorder - - - - - - X-linked recessive - - - - - 231160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 - Familial cerebral saccular aneurysm - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 231169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 - Usher syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 231080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080 - High-grade dysplasia in patients with Barrett esophagus - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 - Rhabdoid tumor predisposition syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 - Familial hypocalciuric hypercalcemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 231111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111 - Drug-induced lupus erythematosus - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 1223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223 - Balantidiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 - Familial generalized lentiginosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Unknown - - - - - 3318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 - Essential thrombocythemia - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 - Erythema palmare hereditarium - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 - Zollinger-Ellison syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 231013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 - Congenital trigeminal anesthesia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 230800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800 - Toxin-mediated infectious botulism - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 82 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519 - Acute myeloid leukemia - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 235936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 - Familial hyperaldosteronism - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - - - 238269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 - AApoAII amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 238446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 - 15q11q13 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 231573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573 - Congenital erosive and vesicular dermatosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 231580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580 - Primary unilateral adrenal hyperplasia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 231568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 231632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231632 - Ectopic aldosterone-producing tumor - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 231637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231637 - Rare surgically correctable form of primary aldosteronism - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 231625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625 - Adrenocortical carcinoma with pure aldosterone hypersecretion - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 - Isolated growth hormone deficiency type IB - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 231679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 - Isolated growth hormone deficiency type II - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 231641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231641 - Rare non surgically correctable form of primary aldosteronism - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - Not applicable - - - - - 285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 - Hypermobile Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 231662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 - Isolated growth hormone deficiency type IA - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 - Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 231742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742 - Epibulbar lipodermoid-preauricular appendage-polythelia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 231692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 - Isolated growth hormone deficiency type III - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 - Congenital nephrotic syndrome, Finnish type - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 238750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750 - 4q21 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 238763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 - Familial congenital mirror movements - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 238769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 - 1q44 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 238517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 - Hypotonia-cystinuria type 1 syndrome - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 - Combined immunodeficiency due to CD27 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 238468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 - Hypohidrotic ectodermal dysplasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - No data available - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 238583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 - Chuvash erythrocytosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547 - Acquired secondary polycythemia - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 238536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 - Congenital secondary polycythemia - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 238637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 - Megacystis-megaureter syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 238624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624 - Idiopathic intracranial hypertension - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 238621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621 - Ileal pouch anal anastomosis related faecal incontinence - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 238606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606 - Primary orthostatic tremor - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 238593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593 - IgG4-related mesenteritis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 238688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688 - Neonatal iodine exposure - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 238670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 - Isolated thyrotropin-releasing hormone deficiency - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 238666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 - Isolated congenital hypogonadotropic hypogonadism - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Oligogenic - - - Unknown - - - X-linked recessive - - - - - 238654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 - Congenital primary megaureter, nonrefluxing and unobstructed form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 238650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 - Congenital primary megaureter, refluxing form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 238646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 - Congenital primary megaureter, obstructed form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 238642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 - Primary megaureter, adult-onset form - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Unknown - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 240760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 - Nijmegen breakage syndrome-like disorder - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 331226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 - Susceptibility to infection due to TYK2 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 331235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235 - Selective IgM deficiency - - Disease - - - Disorder - - - - All ages - - - - - - - 331176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 - Severe congenital neutropenia due to G6PC3 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 331187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 - Immunodeficiency due to MASP-2 deficiency - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 331190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 - Immunodeficiency due to ficolin3 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 331206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 - Severe combined immunodeficiency due to complete RAG1/2 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 330064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064 - Chronic actinic dermatitis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 330001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 - Wild type ATTR amyloidosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 329977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 - Classic neuroendocrine tumor of appendix - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 329984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 - Goblet cell carcinoma - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 330012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012 - High altitude pulmonary edema - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 330015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330015 - Lead poisoning - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 330032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 - Hemoglobin Lepore-beta-thalassemia syndrome - - Disease - - - Disorder - - - - No data available - - - - - Autosomal recessive - - - - - 330041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 - Hemoglobin M disease - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 330021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021 - Mercury poisoning - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 330058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058 - Hydroa vacciniforme - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 330061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061 - Actinic prurigo - - Disease - - - Disorder - - - - Childhood - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813 - Mosaic genome-wide paternal uniparental disomy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 329883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883 - Non-hypoproteinemic hypertrophic gastropathy - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 329874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874 - Idiopathic giant cell myocarditis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 329475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 - Spastic paraplegia-Paget disease of bone syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 329478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 - Adult-onset distal myopathy due to VCP mutation - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 329942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 329931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 - C3 glomerulonephritis - - Histopathological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 329967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 - Intermittent hydrarthrosis - - Disease - - - Disorder - - - - Adult - - - - - - - 329894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894 - Juvenile overlap myositis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - - - 329918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918 - C3 glomerulopathy - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 329903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - Clinical subtype - - - Subtype of disorder - - - - - - Multigenic/multifactorial - - - Unknown - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 329457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 - Distal arthrogryposis type 5D - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 329466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 - Autosomal dominant focal dystonia, DYT25 type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 329469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 - Acute megakaryoblastic leukemia in children without Down syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Not applicable - - - - - 329329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 - Autosomal recessive frontotemporal pachygyria - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Mitochondrial inheritance - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 329224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 - Schuurs-Hoeijmakers syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 329217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 - Cerebral sinovenous thrombosis - - Disease - - - Disorder - - - - All ages - - - - - - - 329211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 329195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 - Developmental delay with autism spectrum disorder and gait instability - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 329249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 329242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 - Congenital chronic diarrhea with protein-losing enteropathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 329173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 - Congenital factor XI deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 1243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 - Best vitelliform macular dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 325124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 - Testicular agenesis - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - - - 325345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 - 46,XY ovotesticular difference of sex development - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 324964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964 - Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Not applicable - - - - - 324972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972 - MAGIC syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324936 - Unclassified autoinflammatory syndrome - - Category - - - Group of disorders - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 324718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 - ABetaA21G amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - - - 324713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 - ABeta amyloidosis, Italian type - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 - ABeta amyloidosis, Arctic type - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 324648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324648 - Invasive non-typhoidal salmonellosis - - Disease - - - Disorder - - - - All ages - - - - - - - 324636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636 - Autoerythrocyte sensitization syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 324708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 - ABeta amyloidosis, Iowa type - - Clinical subtype - - - Subtype of disorder - - - - Elderly - - - - - Autosomal dominant - - - - - 324703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 - ABetaL34V amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 324611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - - - 324604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 - Classic multiminicore myopathy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632 - Hendra virus infection - - Disease - - - Disorder - - - - All ages - - - - - - - 324625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625 - Chikungunya - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 324588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 - Familial dyskinesia and facial myokymia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 324601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 - X-linked cleft palate and ankyloglossia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - X-linked recessive - - - - - 324581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 - Benign Samaritan congenital myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 324540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 324530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - No data available - - - - - 324442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 - Autosomal recessive axonal neuropathy with neuromyotonia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 324416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 324381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381 - Hereditary inclusion body myopathy type 4 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 324364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - Disease - - - Disorder - - - - Neonatal - - - - - - - 324353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 - Congenital achiasma - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 324307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 324294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 - T-cell immunodeficiency with epidermodysplasia verruciformis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 324290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 - PRDM8-related progressive myoclonus epilepsy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 320342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320342 - Pure or complex autosomal dominant spastic paraplegia - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 320346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320346 - Pure or complex autosomal recessive spastic paraplegia - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 320360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 - MT-ATP6-related mitochondrial spastic paraplegia - - Disease - - - Disorder - - - - Adult - - - - - Mitochondrial inheritance - - - - - 320355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 - Autosomal dominant spastic paraplegia type 41 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 320370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 - Autosomal recessive spastic paraplegia type 43 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 320365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 - Autosomal dominant spastic paraplegia type 36 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 320380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 - Autosomal recessive spastic paraplegia type 54 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 320391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 - Autosomal recessive spastic paraplegia type 46 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 320401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 - Autosomal recessive spastic paraplegia type 44 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 320396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 - Autosomal recessive spastic paraplegia type 45 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 320411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 - Autosomal recessive spastic paraplegia type 56 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 319543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319543 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 319547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 319535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319535 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 319539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319539 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 319519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 - Combined oxidative phosphorylation defect type 14 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 319524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 - Combined oxidative phosphorylation defect type 15 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 319509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 - Combined oxidative phosphorylation defect type 9 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 319514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 - Combined oxidative phosphorylation defect type 13 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 319589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 319595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 - Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 319574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 319581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 319563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 - Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 319569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 319552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 - Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 319558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 - Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 319640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 - Retinal macular dystrophy type 2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 319635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 - Amyloidosis cutis dyschromia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 319605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 - X-linked mendelian susceptibility to mycobacterial diseases - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 319600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 - Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 319254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319254 - Kyasanur forest disease - - Disease - - - Disorder - - - - All ages - - - - - - - 319266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319266 - Omsk hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276 - Clear cell renal carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 319239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319239 - Brazilian hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319244 - Chapare hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251 - Rift valley fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319 - Renal medullary carcinoma - - Disease - - - Disorder - - - - Adult - - - - - - - 319322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322 - Mucinous tubular and spindle cell renal carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 319325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325 - Tubulocystic renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 319298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 - Papillary renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 319303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 - Chromophobe renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 319308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 - MiT family translocation renal cell carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 319332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 319487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 - Familial papillary or follicular thyroid carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 319480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 - Acute myeloid leukemia with CEBPA somatic mutations - - Disease - - - Disorder - - - - - - Not applicable - - - - - 319504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 - Combined oxidative phosphorylation defect type 8 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 319465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 - Inherited acute myeloid leukemia - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 319462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 319213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319213 - Lujo hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 319199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 - Autosomal recessive spastic paraplegia type 53 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 319229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319229 - Bolivian hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319234 - Venezuelan hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319218 - Ebola hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 319223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319223 - Argentine hemorrhagic fever - - Disease - - - Disorder - - - - All ages - - - - - - - 319160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 - Congenital myopathy with internal nuclei and atypical cores - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 319171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 - Distal 17p13.1 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 319189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 - Familial cortical myoclonus - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 319192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 - Diencephalic-mesencephalic junction dysplasia - - Morphological anomaly - - - Disorder - - - - - - Autosomal recessive - - - - - 319182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 - Wiedemann-Steiner syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 317428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 - Combined immunodeficiency due to ORAI1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 317425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 - Severe combined immunodeficiency due to DNA-PKcs deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 317430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 - Combined immunodeficiency due to STIM1 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 317473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 - Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 317476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 - XMEN - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - X-linked recessive - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 - Cataract-congenital heart disease-neural tube defect syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 314978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 - X-linked non progressive cerebellar ataxia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 314970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 - Lymphocytic hypereosinophilic syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 314962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 - Secondary hypereosinophilic syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 314950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 - Primary hypereosinophilic syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 316235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316235 - Autosomal dominant spastic ataxia - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 316240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316240 - Autosomal recessive spastic ataxia - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 314701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 - Primary systemic amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 314709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 - Primary localized amyloidosis - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 314679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 - Cerebrofacioarticular syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 - Combined immunodeficiency due to STK4 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 314684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684 - Primary bone lymphoma - - Disease - - - Disorder - - - - All ages - - - - - - - 314652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652 - Variant ABeta2M amyloidosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 314662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 314621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 - Duplication of the pituitary gland - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 314802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 - Short stature due to partial GHR deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 314811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 - Short stature due to GHSR deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 314889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889 - Autosomal dominant proximal renal tubular acidosis - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 314777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 - Familial isolated pituitary adenoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - - - 314786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786 - Silent pituitary adenoma - - Histopathological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 314790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790 - Null pituitary adenoma - - Histopathological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 314795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 - SHOX-related short stature - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 314769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769 - Somatomammotropinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 - Atypical dentin dysplasia due to SMOC2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127 - Medich giant platelet syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 370109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 - Ataxia-telangiectasia variant - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 370103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 - Primary dystonia, DYT17 type - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 - Small cell carcinoma of the ovary - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 370348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 - Peripheral primitive neuroectodermal tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 370334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 - Extraskeletal Ewing sarcoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 370131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131 - White platelet syndrome - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 370046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046 - Didymosis aplasticosebacea - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 370034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 - Familial syringomyelia - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 370039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039 - Angora hair nevus - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 - Acute myeloid leukemia with t(8;16)(p11;p13) translocation - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 370015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 370088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 - Acute infantile liver failure-multisystemic involvement syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076 - Fetal carbamazepine syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 370079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 - Proximal 16p11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 370052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052 - SCALP syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 371007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007 - Congenital muscular dystrophy with hyperlaxity - - Disease - - - Disorder - - - - Neonatal - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 369970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 369979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 369992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 370002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 - Focal palmoplantar keratoderma with joint keratoses - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 369999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 - Diffuse palmoplantar keratoderma with painful fissures - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 370010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 - TRAPPC11-related limb-girdle muscular dystrophy R18 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 369847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 369852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - Disease - - - Disorder - - - - Adult - - - All ages - - - Childhood - - - - - Autosomal recessive - - - - - 369873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 - Obesity due to SIM1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 - 2p21 microdeletion syndrome without cystinuria - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886 - Homozygous 2p21 microdeletion syndrome - - Clinical group - - - Group of disorders - - - - - - Not applicable - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 364063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 - Infantile epileptic-dyskinetic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 364055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 - Severe early-childhood-onset retinal dystrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 364039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039 - Hydroa vacciniforme-like lymphoma - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 364043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 - ALK-positive large B-cell lymphoma - - Disease - - - Disorder - - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 364028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 - X-linked intellectual disability due to GRIA3 mutations - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 364033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033 - Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 - Non-immune hydrops fetalis - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 - Isolated anencephaly/exencephaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 364013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013 - Immune hydrops fetalis - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 363989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 - Familial benign flecked retina - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 - Spina bifida and other spinal dysraphisms - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976 - Giant cell tumor of bone - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 363981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 - Charcot-Marie-Tooth disease type 4B3 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 363969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 - Autosomal recessive cerebral atrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746 - Balint syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 363717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 - Alexander disease type I - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 - 2p13.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 364198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 - Bipartite talus - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 363654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 - X-linked parkinsonism-spasticity syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - X-linked recessive - - - - - 363659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 - 20q11.2 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 363665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 363549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 - Acute encephalopathy with biphasic seizures and late reduced diffusion - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 363558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 - New-onset refractory status epilepticus - - Disease - - - Disorder - - - - Adult - - - - - - - 363567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567 - Acute encephalopathy with inflammation-mediated status epilepticus - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 363611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 - CTCF-related neurodevelopmental disorder - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 - Non-seminomatous germ cell tumor of testis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 363523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 363454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447 - Autosomal dominant childhood-onset proximal spinal muscular atrophy - - Disease - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 363478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478 - Paratesticular adenocarcinoma - - Disease - - - Disorder - - - - Adult - - - - - - - 363489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489 - Sex cord-stromal tumor of testis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 363483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483 - Testicular teratoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 357175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 357329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 - Combined immunodeficiency due to IL21R deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 357332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 357225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 - Primary non-essential cutis verticis gyrata - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 357237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 - Combined immunodeficiency due to CARD11 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 357502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502 - Idiopathic nephrotic syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 357008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 - Hemolytic uremic syndrome with DGKE deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - Not applicable - - - - - 357001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 - 19p13.13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 356996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 - ANK3-related intellectual disability-sleep disturbance syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 357043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 - Amyotrophic lateral sclerosis type 4 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 357034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034 - Non-hereditary retinoblastoma - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 357154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154 - Oral submucous fibrosis - - Disease - - - Disorder - - - - All ages - - - - - - - 352654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 352662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 352657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657 - Hereditary benign intraepithelial dyskeratosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 352636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636 - Phalangeal microgeodic syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 - Progressive myoclonic epilepsy with dystonia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 - 16q24.1 microdeletion syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 352577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 - Bainbridge-Ropers syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 352582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 - Familial infantile myoclonic epilepsy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 352723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 - Attenuated Chédiak-Higashi syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 352670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - Disease - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 353253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253 - Burning mouth syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 353220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 - Familial primary localized cutaneous amyloidosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 352763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763 - Scleredema - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 353334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 - Congenital retinal arteriovenous communication - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 352540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540 - Oncogenic osteomalacia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 294422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 - Chronic intestinal failure - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 293987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 294026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026 - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 293958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 - Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 293955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - No data available - - - - - Unknown - - - - - 293939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 - Distal Xq28 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 293936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 - EDICT syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 293925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 293899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 293888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 293864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 293830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 - Constitutional dyserythropoietic anemia - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 293822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 293825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 - Congenital dyserythropoietic anemia type IV - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 293812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812 - Fixed drug eruption - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 293815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293815 - Toxic dermatosis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 293807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293807 - Ketamine-induced biliary dilatation - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked recessive - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 295036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036 - Congenital patella dislocation - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 295000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 - Amniotic band syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 294975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 - Isolated absence of upper arm and forearm with hand present - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - Clinical group - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 294971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 - Isolated tetra-amelia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - - - 289891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Unknown - - - - - 289877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 - Transient hyperammonemia of the newborn - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Neonatal - - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661 - Epstein-Barr virus-positive diffuse large B-cell lymphoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 289548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 - BAP1-related tumor predisposition syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 289601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601 - Hereditary arterial and articular multiple calcification syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 289596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596 - Juvenile nasopharyngeal angiofibroma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Not applicable - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 - Methylmalonic acidemia without homocystinuria - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 293375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375 - Grayson-Wilbrandt corneal dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 293381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 - Epithelial recurrent erosion dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 293462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462 - Pre-Descemet corneal dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 293603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 - Congenital hereditary endothelial dystrophy type II - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621 - X-linked endothelial corneal dystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 - Familial mitral valve prolapse - - Morphological anomaly - - - Disorder - - - - - - Autosomal dominant - - - - - 293144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 - Familial clubfoot due to 5q31 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 293168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 - Infantile-onset ascending hereditary spastic paralysis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 2298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298 - Insulin-resistance syndrome type B - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207 - Familial primary hyperparathyroidism - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - - - 293173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173 - Acute generalized exanthematous pustulosis - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 293199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 - Pleomorphic rhabdomyosarcoma - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 293202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202 - Epithelioid sarcoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 293208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293208 - Celiac artery compression syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 2459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459 - Mansonelliasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2404 - Loiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 2356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 - Arachnoid cyst - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - Not applicable - - - - - 829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829 - Adult-onset Still disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 3096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3096 - Reye syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 1929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 - Rasmussen subacute encephalitis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 1183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 - Opsoclonus-myoclonus syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 2688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2688 - Adult idiopathic neutropenia - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 2686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 - Cyclic neutropenia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890 - Hepatic veno-occlusive disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 - Non-rhizomelic chondrodysplasia punctata - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - X-linked recessive - - - - - 231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231 - Dracunculiasis - - Disease - - - Disorder - - - - All ages - - - - - - - 2035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2035 - Lymphatic filariasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 284448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448 - CLIPPERS - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 284454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454 - Acute zonal occult outer retinopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 284460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460 - Acute annular outer retinopathy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 284414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 - Glycerol kinase deficiency, adult form - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - X-linked recessive - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 284435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - - - 284984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 - Aneurysm-osteoarthritis syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 284979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 - Neonatal Marfan syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 289347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347 - Infective dermatitis associated with HTLV-1 - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 289356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356 - Primary non-gestational choriocarcinoma of ovary - - Disease - - - Disorder - - - - Adolescent - - - - - Unknown - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 - Myosclerosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 289266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 289326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326 - Tropical spastic paraparesis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 289307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 289499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 - Congenital cataract microcornea with corneal opacity - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 289494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 - 4H leukodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 289522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 289465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 - Isolated congenital adermatoglyphia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 289390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390 - Primary Sjögren disease - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 289385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385 - Malignancy diagnosed during pregnancy - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - - - - - 289483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 - Intellectual disability-alacrima-achalasia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 289478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 - PASH syndrome - - Disease - - - Disorder - - - - Adult - - - - - No data available - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 289157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 - Hypocalcemic vitamin D-dependent rickets - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280926 - Systemic diseases with anterior uveitis - - Category - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 280921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921 - Idiopathic panuveitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 280898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280898 - Panuveitis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 280892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280892 - Posterior uveitis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 280886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280886 - Anterior uveitis - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 281097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 - Autosomal recessive congenital ichthyosis - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 281090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 - Syndromic recessive X-linked ichthyosis - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 281210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 - X-linked ichthyosis syndrome - - Clinical group - - - Group of disorders - - - - - - Not applicable - - - X-linked dominant - - - X-linked recessive - - - - - 281190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 - Congenital reticular ichthyosiform erythroderma - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 281201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 281139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 - Annular epidermolytic ichthyosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Unknown - - - - - 280628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 - Familial progressive hyper- and hypopigmentation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 - Hemoglobinopathy Toms River - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 280598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 - Hereditary sensorimotor neuropathy with hyperelastic skin - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 280620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 - Progressive myoclonic epilepsy type 6 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 - Autosomal recessive nail dysplasia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 280779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779 - Cutaneous collagenous vasculopathy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 280785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 - Bullous diffuse cutaneous mastocytosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 280794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 - Pseudoxanthomatous diffuse cutaneous mastocytosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 280763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 - Severe intellectual disability and progressive spastic paraplegia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 280774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774 - Generalized essential telangiectasia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 280840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 - Congenital pulmonary airway malformation type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 280847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 - Congenital pulmonary airway malformation type 3 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 280854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 - Congenital pulmonary airway malformation type 4 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 280827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 - Congenital pulmonary airway malformation type 0 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 280832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 - Congenital pulmonary airway malformation type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 284180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 - Xp22.13p22.2 duplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Not applicable - - - Unknown - - - - - 284160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 - 8q21.11 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 284232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 284227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227 - TEMPI syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 284264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284264 - IgG4-related disease - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 284343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 - DICER1 tumor-predisposition syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 284332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 284388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388 - Reversible cerebral vasoconstriction syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 284362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362 - Fetal lung interstitial tumor - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 284411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 - Glycerol kinase deficiency, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - X-linked recessive - - - - - 284395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395 - Well-differentiated fetal adenocarcinoma of the lung - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 284400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400 - Small cell carcinoma of the bladder - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 314029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 - High bone mass osteogenesis imperfecta - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 314022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 - Gastric adenocarcinoma and proximal polyposis of the stomach - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 314017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017 - Idiopathic linear interstitial keratitis - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 314002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002 - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - No data available - - - - - 313947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 - 2q23.1 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 313936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 - PENS syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 313920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920 - Epstein-Barr virus-associated gastric carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Multigenic/multifactorial - - - - - 313906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 - Congenital pancreatic cyst - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 313892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 - Developmental and speech delay due to SOX5 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 313846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 313800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 313781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 - 20p13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613 - Growing teratoma syndrome - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 314485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 - Young adult-onset distal hereditary motor neuropathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 314566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566 - Primary progressive apraxia of speech - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466 - Atypical Meigs syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459 - Pseudo-Meigs syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478 - Ovarian fibrothecoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473 - Ovarian fibroma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422 - Ameloblastic carcinoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 314432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432 - Spigelian hernia-cryptorchidism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 314451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451 - Meigs syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 314394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 - Autosomal dominant aplasia and myelodysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 314419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419 - Ameloblastoma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 314373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 314376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 314381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 - Hereditary sensory and autonomic neuropathy type 6 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 - Xq12-q13.3 duplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 314034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 - 7p22.1 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 314041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041 - Marfanoid habitus-inguinal hernia-advanced bone age syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - No data available - - - - - 306682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306682 - Manganese poisoning - - Disease - - - Disorder - - - - All ages - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 306669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669 - Hemiparkinsonism-hemiatrophy syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 306692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306692 - Cyanide-induced parkinsonism-dystonia - - Disease - - - Disorder - - - - All ages - - - - - - - 306686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306686 - Delayed encephalopathy due to carbon monoxide poisoning - - Disease - - - Disorder - - - - All ages - - - - - - - 306741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741 - Hemidystonia-hemiatrophy syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 306734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 - Primary dystonia, DYT21 type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 306731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731 - Sydenham chorea - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 308166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166 - Erythrokeratoderma variabilis progressiva - - Clinical group - - - Group of disorders - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 308425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 307766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 - Curly hair-acral keratoderma-caries syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - - - 307804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804 - Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 307773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773 - Autosomal dominant diffuse mutilating palmoplantar keratoderma - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 307936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 307995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995 - Marginal papular palmoplantar keratoderma - - Clinical group - - - Group of disorders - - - - - - Autosomal dominant - - - - - 308041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041 - Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 308031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031 - Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - - Category - - - Group of disorders - - - - - - Autosomal dominant - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - Etiological subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 - Chordoma - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592 - Macrophagic myofasciitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 - Atypical Gaucher disease due to saposin C deficiency - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 - Hyper-beta-alaninemia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 300547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 - Autosomal recessive infantile hypercalcemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 - Follicular cholangitis and pancreatitis - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 300557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557 - Carcinoma of the ampulla of Vater - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 300564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564 - Combined pulmonary fibrosis-emphysema syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 300579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300579 - Staphylococcal toxemia - - Category - - - Group of disorders - - - - All ages - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 300501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501 - Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - - - Unknown - - - - - 300504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504 - Onychocytic matricoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 300512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512 - Onychomatricoma - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 300525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 - Pseudohypoaldosteronism type 2D - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 300530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 - Pseudohypoaldosteronism type 2E - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849 - Diffuse large B-cell lymphoma of the central nervous system - - Disease - - - Disorder - - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 300846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846 - Aggressive B-cell non-Hodgkin lymphoma - - Category - - - Group of disorders - - - - Adult - - - - - - - 300865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 - Primary cutaneous anaplastic large cell lymphoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 300857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857 - T-cell/histiocyte rich large B cell lymphoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 300878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 - Hairy cell leukemia variant - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Unknown - - - - - 300895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 - ALK-positive anaplastic large cell lymphoma - - Histopathological subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 300605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 - Juvenile amyotrophic lateral sclerosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 300751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 300842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842 - Indolent B-cell non-Hodgkin lymphoma - - Category - - - Group of disorders - - - - Adult - - - - - - - 300903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903 - ALK-negative anaplastic large cell lymphoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 300912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912 - Marginal zone lymphoma - - Clinical group - - - Group of disorders - - - - Adult - - - - - - - 306431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431 - Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 306550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 - FADD-related immunodeficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 306553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553 - Myospherulosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 306527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 - Isolated hereditary congenital facial paralysis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 306516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 306644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644 - Complication after organ transplantation - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 306577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 - Hereditary sodium channelopathy-related small fibers neuropathy - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 295195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 - Synpolydactyly type 1 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 - Zygodactyly type 3 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 - Congenital vertical talus, unilateral - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 - Congenital vertical talus, bilateral - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 - Synpolydactyly type 2 - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 - Macrodactyly of fingers, unilateral - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 295243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 - Macrodactyly of toes, unilateral - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 298644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 - Disorder of thiamine metabolism and transport - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 300324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 - Persistent polyclonal B-cell lymphocytosis - - Disease - - - Disorder - - - - No data available - - - - - Multigenic/multifactorial - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 300284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 300293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 - Transient infantile hypertriglyceridemia and hepatosteatosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 300385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385 - Pituitary carcinoma - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 300493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493 - Sagliker syndrome - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 300373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 - X-linked acrogigantism - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 300382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382 - Progeroid and marfanoid aspect-lipodystrophy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 300345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 - Autosomal systemic lupus erythematosus - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 300359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 - PLCG2-associated antibody deficiency and immune dysregulation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 464724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 - Fever-associated acute infantile liver failure syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 464760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 - Familial cavitary optic disc anomaly - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 464756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 - Familial gastric type 1 neuroendocrine tumor - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 465508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 - Symptomatic form of HFE-related hemochromatosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 464306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 - DYRK1A-related intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 464329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329 - Kaposiform lymphangiomatosis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 464321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 464318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 - Verrucous hemangioma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 464311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 464359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359 - Benign metanephric tumor - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 464343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343 - Catastrophic antiphospholipid syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 464336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 - BENTA disease - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 464453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453 - Acquired methemoglobinemia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 464440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 - Primary dystonia, DYT27 type - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 464370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 - Neonatal alloimmune neutropenia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 464458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464458 - Paracetamol poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 - Lymphedema with yellow nails - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Neonatal - - - - - - - 537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537 - Toxic epidermal necrolysis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793 - SAPHO syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 456333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 - Hereditary neuroendocrine tumor of small intestine - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 454840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 - NTHL1-related polyposis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal recessive - - - - - 454831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831 - Acute radiation syndrome - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 454836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836 - Avian influenza - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 454887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 - Corticobasal syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 454742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 - Variably protease-sensitive prionopathy - - Disease - - - Disorder - - - - - - Not applicable - - - - - 454723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723 - Endometrioid carcinoma of ovary - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 454718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718 - Holmes-Adie syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 454714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714 - Plasma cell leukemia - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 454750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 - Isolated tracheoesophageal fistula - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 454745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 - Kuru - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 454710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710 - Anti-p200 pemphigoid - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 454706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706 - Progressive muscular atrophy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 454700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 - Acquired Creutzfeldt-Jakob disease - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 451602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602 - Primary cutaneous plasmacytosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 451607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607 - Cutaneous pseudolymphoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 453510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 - Congenital insensitivity to pain with severe intellectual disability - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 450322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322 - Polyclonal hyperviscosity syndrome - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - All ages - - - Elderly - - - - - Not applicable - - - - - 449566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566 - Eosinophilic angiocentric fibrosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 449563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563 - IgG4-related ophthalmic disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 449400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400 - IgG4-related aortitis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 449395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395 - IgG4-related kidney disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 449432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432 - IgG4-related submandibular gland disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 449427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427 - IgG4-related pachymeningitis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 449280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280 - Scedosporiosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 449285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285 - Snakebite envenomation - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 449266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266 - Pleural empyema - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 448264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 - Isolated focal non-epidermolytic palmoplantar keratoderma - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 448251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 - Progressive autosomal recessive ataxia-deafness syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 448270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 - Ectopia cordis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 448267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 - Regressive spondylometaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 448242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 - Autosomal recessive brachyolmia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 448237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448237 - Zika virus disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 447977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 - Progressive scapulohumeroperoneal distal myopathy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 447974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 447964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 459056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 - Autosomal recessive spastic paraplegia type 75 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 458718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718 - Idiopathic spontaneous coronary artery dissection - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 458758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758 - Composite hemangioendothelioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 458763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763 - Retiform hemangioendothelioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 458768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768 - Papillary intralymphatic angioendothelioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 458785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785 - Partially involuting congenital hemangioma - - Disease - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 458792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 - Mixed cystic lymphatic malformation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 457485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 457265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 - Progressive myoclonic epilepsy type 9 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 457279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 457260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 - X-linked intellectual disability-hypotonia-movement disorder syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - X-linked dominant - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 457246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 - Clear cell sarcoma of kidney - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 457378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 - Complex lethal osteochondrodysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 457365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 457083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 - Isolated splenogonadal fusion - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - No data available - - - - - 457077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077 - TAFRO syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 457095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095 - Actinomycosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 457088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 - Predisposition to invasive fungal disease due to CARD9 deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal recessive - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - Group of disorders - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 - Short stature due to growth hormone qualitative anomaly - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 3437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 - Vogt-Koyanagi-Harada disease - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 2032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 - Idiopathic pulmonary fibrosis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 1303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303 - Bronchiolitis obliterans - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 3348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348 - Tracheobronchopathia osteochondroplastica - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Elderly - - - - - Unknown - - - - - 2902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902 - Idiopathic chronic eosinophilic pneumonia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302 - Cryptogenic organizing pneumonia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 466677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466677 - Scorpion envenomation - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 466682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682 - Euthyroid Graves orbitopathy - - Disease - - - Disorder - - - - - - Not applicable - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 466695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 - Supratip dysplasia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 466670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466670 - Cyanide poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 466650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650 - Exercise-induced malignant hyperthermia - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 466962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962 - SMARCA4-deficient sarcoma of thorax - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 466950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - - - 466943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 466934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 466921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 466806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 - Autosomal dominant thrombocytopenia with platelet secretion defect - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 466791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 466775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 466768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - Disorder - - - - - - Autosomal dominant - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 466718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 - Martinique crinkled retinal pigment epitheliopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 465824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 - Fetal encasement syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 466026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 - Class I glucose-6-phosphate dehydrogenase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 468620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 - Intellectual disability-epilepsy-extrapyramidal syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Not applicable - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 468635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 468641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 - Chronic enteropathy associated with SLCO2A1 gene - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 468666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 - Isolated generalized anhidrosis with normal sweat glands - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - - - 468726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 - Severe primary trimethylaminuria - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 401785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 - Autosomal recessive spastic paraplegia type 62 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 401780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 - Autosomal recessive spastic paraplegia type 61 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 - Autosomal recessive spastic paraplegia type 60 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 - Autosomal recessive spastic paraplegia type 59 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 401764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 - Pancytopenia-developmental delay syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 401777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 - Optic atrophy-intellectual disability syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 401830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 - Autosomal recessive spastic paraplegia type 69 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 - Autosomal recessive spastic paraplegia type 70 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 - Autosomal recessive spastic paraplegia type 71 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 - Autosomal recessive spastic paraplegia type 63 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 - Autosomal recessive spastic paraplegia type 64 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 401815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 - Autosomal recessive spastic paraplegia type 66 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 401849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 - Autosomal spastic paraplegia type 72 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 401854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 - Lipoic acid biosynthesis defect - - Category - - - Group of disorders - - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 401862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 - Lipoyl transferase 1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 402823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823 - Hepatitis delta - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 401920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 - Fibrolamellar hepatocellular carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 401942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942 - Familial median cleft of the upper and lower lips - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 401935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 - 14q24.1q24.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 401923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 - 9q31.1q31.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 401953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953 - Episodic ataxia with slurred speech - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 401979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 401964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 402003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 402007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007 - Lichen myxedematosus - - Clinical group - - - Group of disorders - - - - Adult - - - Infancy - - - - - - - 401993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993 - Cold-induced sweating syndrome-hyperthermia spectrum - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 401996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 - Karyomegalic interstitial nephritis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 402035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035 - Eosinophilic colitis - - Disease - - - Disorder - - - - Adult - - - Infancy - - - - - - - 402026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 - Acute myeloid leukemia with NPM1 somatic mutations - - Disease - - - Disorder - - - - - - Not applicable - - - - - 402082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 - Progressive myoclonic epilepsy type 5 - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 402364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 402041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 - Autosomal recessive distal renal tubular acidosis - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 - Scott syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Unknown - - - - - 404466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 - Female infertility due to zona pellucida defect - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 404451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 404448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 - ADNP syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 404553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 - Deficiency of adenosine deaminase 2 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 404546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 - DITRA - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 404521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 - Spinal muscular atrophy with respiratory distress type 2 - - Disease - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 404514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514 - Acquired cystic disease-associated renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 404507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 - Chondromyxoid fibroma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - Group of disorders - - - - - - Autosomal recessive - - - - - 404476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 411527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527 - Central retinal vein occlusion - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - - - X-linked recessive - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 411593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593 - Insulin autoimmune syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 411501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 - Williams-Campbell syndrome - - Morphological anomaly - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - - - Not applicable - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - - - Not applicable - - - - - 411777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777 - Generalized eruptive keratoacanthoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 411712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 - Maternal riboflavin deficiency - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 411788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 - Familial isolated trichomegaly - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 412035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 - 13q12.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 412022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 411696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411696 - Proton-pump inhibitor-responsive esophageal eosinophilia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 411709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 - Renal agenesis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 411703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703 - Pulmonary non-tuberculous mycobacterial infection - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 371428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673 - Necrotizing enterocolitis - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 391677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 - Mucinous adenocarcinoma of the appendix - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 391474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 - Frontorhiny - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 391504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504 - Transient neonatal myasthenia gravis - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 391497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497 - Juvenile myasthenia gravis - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 391490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 - Adult-onset myasthenia gravis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 391655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655 - Off-periods in Parkinson disease not responding to oral treatment - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 391651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391651 - Glomus tumor - - Disease - - - Disorder - - - - All ages - - - - - - - 391343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 - Fatal post-viral neurodegenerative disorder - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 391366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 - FOXP1 Syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384 - Familial episodic pain syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 391389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 - Familial episodic pain syndrome with predominantly upper body involvement - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 391392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 - Familial episodic pain syndrome with predominantly lower limb involvement - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 391397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 - Hereditary sensory and autonomic neuropathy type 7 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 391411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 - Atypical juvenile parkinsonism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - Not applicable - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 391307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 391311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 391327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 - X-linked calvarial hyperostosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 391320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 - East Texas bleeding disorder - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 391330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 - X-linked osteoporosis with fractures - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 398063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063 - Refractory celiac disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 398058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058 - Squamous cell carcinoma of the penis - - Disease - - - Disorder - - - - Elderly - - - - - - - 398053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053 - Adenocarcinoma of the penis - - Disease - - - Disorder - - - - Elderly - - - - - - - 398043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043 - Malignant tumor of penis - - Category - - - Group of disorders - - - - Elderly - - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 - Charcot-Marie-Tooth disease type 2R - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 - Combined immunodeficiency due to MALT1 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 - TCR-alpha-beta-positive T-cell deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 - Autosomal spastic paraplegia type 58 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 397933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 397927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - Disorder - - - - Infancy - - - - - X-linked recessive - - - - - 397787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 - Combined immunodeficiency due to IKBKB deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 - Periodic paralysis with transient compartment-like syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 397758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Mitochondrial inheritance - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 397735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 - Hereditary isolated aplastic anemia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 - Familial hyperprolactinemia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 397615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 - Obesity due to CEP19 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 397618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596 - Activated PI3K-delta syndrome - - Clinical group - - - Group of disorders - - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 397593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 - Macrocephaly-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 397587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397587 - Deep dermatophytosis - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 399808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808 - Male infertility with teratozoospermia due to single gene mutation - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 399805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 - Male infertility with azoospermia or oligozoospermia due to single gene mutation - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 399329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329 - Epiphysiolysis of the hip - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - - - 399180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180 - Secondary non-traumatic avascular necrosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 398987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987 - Malignant teratoma of ovary - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Unknown - - - - - 399086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 - HNRNPA1-related adult-onset distal myopathy - - Disease - - - Disorder - - - - Adult - - - - - - - 399081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 - KLHL9-related early-onset distal myopathy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 399103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 - Distal nebulin myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 399096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 - Distal anoctaminopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 398934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934 - Malignant epithelial tumor of ovary - - Category - - - Group of disorders - - - - Adult - - - - - - - 398961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961 - Mucinous adenocarcinoma of ovary - - Disease - - - Disorder - - - - Adult - - - - - - - 398940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940 - Malignant non-epithelial tumor of ovary - - Category - - - Group of disorders - - - - Adult - - - - - - - 398971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971 - Clear cell adenocarcinoma of the ovary - - Disease - - - Disorder - - - - Adult - - - - - - - 398124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124 - Neonatal lupus erythematosus - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 398127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127 - Neonatal scleroderma - - Disease - - - Disorder - - - - Neonatal - - - - - - - 398147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147 - Persistent idiopathic facial pain - - Disease - - - Disorder - - - - Adult - - - - - - - 398156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156 - Oculoauriculofrontonasal syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Unknown - - - - - 398166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 - Focal facial dermal dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 398173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 - Focal facial dermal dysplasia type II - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 398189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 - Focal facial dermal dysplasia type IV - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - Group of disorders - - - - Neonatal - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 398088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 - Hereditary cryohydrocytosis with normal stomatin - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 398091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398091 - Secondary neonatal autoimmune disease - - Category - - - Group of disorders - - - - Neonatal - - - - - - - 398097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097 - Neonatal antiphospholipid syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 398109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109 - Neonatal autoimmune hemolytic anemia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 398117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117 - Neonatal dermatomyositis - - Disease - - - Disorder - - - - Neonatal - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 435743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 - Congenital urachal anomaly - - Category - - - Group of disorders - - - - Antenatal - - - Neonatal - - - - - - - 435660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 - LIPE-related familial partial lipodystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 435651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 - CIDEC-related familial partial lipodystrophy - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 435638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 - 3p25.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 435845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 435930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 435819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 435953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 435938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 436144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Unknown - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 436169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 - Thrombomodulin-related bleeding disorder - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 436166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 436182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 436242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 436252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 - Combined immunodeficiency-multiple intestinal atresia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 436274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 437552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 438117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 - Steel syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 438114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 438075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 438279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279 - Human infection by orthopoxvirus - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 438274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 - GCGR-related hyperglucagonemia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 438266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266 - Progressive encephalomyelitis with rigidity and myoclonus - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Infancy - - - - - Not applicable - - - - - 438216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 438213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 438207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 - Severe autosomal recessive macrothrombocytopenia - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 439224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224 - ALECT2 amyloidosis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 439232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232 - AApoAIV amyloidosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 439212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 439196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196 - Zinc-responsive necrolytic acral erythema - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 439202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202 - Non-recovering obstetric brachial plexus lesion - - Disease - - - Disorder - - - - - - Not applicable - - - - - 439167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167 - Placental insufficiency - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 439175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439175 - Pediatric arterial ischemic stroke - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 439762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 - Systemic polyarteritis nodosa - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 439822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 - PDE4D haploinsufficiency syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 439746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 - Secondary polyarteritis nodosa - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 439755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 - Single-organ polyarteritis nodosa - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 439729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 - Cutaneous polyarteritis nodosa - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 439737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 - Primary polyarteritis nodosa - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 439246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439246 - ABeta2M amyloidosis - - Clinical group - - - Group of disorders - - - - Adult - - - - - - - 439254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 - ITM2B amyloidosis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 440221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221 - Congenital oculomotor nerve palsy - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 440233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233 - Congenital abducens nerve palsy - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 439849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849 - Autosomal recessive severe congenital neutropenia - - Category - - - Group of disorders - - - - - - Autosomal recessive - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 439881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881 - Plastic bronchitis - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 440402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 - Interstitial lung disease due to ABCA3 deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 440392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 - Interstitial lung disease due to SP-C deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 440368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440368 - Necrotizing soft tissue infection - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 440713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 - Isolated sedoheptulokinase deficiency - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 440724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440724 - Extensive peripapillary myelinated nerve fibers - - Disease - - - Disorder - - - - - - Not applicable - - - - - 440727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727 - Combined hamartoma of the retina and retinal pigment epithelium - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - Biological anomaly - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 440427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 441447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 - Early-onset posterior subcapsular cataract - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 441452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 - Early-onset lamellar cataract - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 440987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987 - Isolated agenesis of gallbladder - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - Subtype of disorder - - - - - - Multigenic/multifactorial - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 443079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079 - Central serous chorioretinopathy - - Disease - - - Disorder - - - - - - Not applicable - - - - - 443084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084 - Baroreflex failure - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 443070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070 - Hemicrania continua - - Disease - - - Disorder - - - - - - Not applicable - - - - - 443073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 - Charcot-Marie-Tooth disease type 2S - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 442582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582 - AH amyloidosis - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 3008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 - Pyruvate carboxylase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 443192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192 - Classic stiff person syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 - Centronuclear myopathy - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 443180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443180 - Spontaneous intracranial hypotension - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 443173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173 - Postpartum psychosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 443291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443291 - HIV-associated cancer - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - - - Not applicable - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396 - Chronic hiccup - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 443236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 - Postural orthostatic tachycardia syndrome due to NET deficiency - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 - MODY - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854 - Non-malignant and non-cirrhotic portal vein thrombosis - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 443227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443227 - Paratyphoid fever - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 443098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 - Hyperostosis cranialis interna - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 443167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167 - NUT midline carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 - Brugada syndrome - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 443159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159 - Lymphoplasmacytic lymphoma without IgM production - - Disease - - - Disorder - - - - - - Not applicable - - - - - 443101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101 - Hypothalamic adipsic hypernatraemia syndrome - - Disease - - - Disorder - - - - - - Not applicable - - - - - 443804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804 - Focal stiff limb syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 443950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 443988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 - Ventriculomegaly-cystic kidney disease - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 444092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 - Autoimmune interstitial lung disease-arthritis syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 444099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 - Autosomal dominant spastic paraplegia type 73 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 444138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 444002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 - 11q22.2q22.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 444051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 - 20q11.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 444463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 444490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 - Familial chylomicronemia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 444316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316 - Idiopathic phalangeal acro-osteolysis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 444458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 - Combined oxidative phosphorylation defect type 24 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 447731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 - NIK deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 447737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 - Combined immunodeficiency due to DOCK2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 447740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 - Aggressive periodontitis - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 447881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881 - Idiopathic dropped head syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 447877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 - Polymerase proofreading-related polyposis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 447788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788 - Cerebral visual impairment - - Clinical syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - Biological anomaly - - - Disorder - - - - No data available - - - - - No data available - - - - - 447774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774 - Secondary sclerosing cholangitis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 447777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777 - Keratocystic odontogenic tumor - - Disease - - - Disorder - - - - - - Not applicable - - - - - 447757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 - Autosomal dominant spastic paraplegia type 9B - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Infancy - - - - - Autosomal dominant - - - - - 447753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 - Autosomal dominant spastic paraplegia type 9A - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Infancy - - - - - Autosomal dominant - - - - - 447764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764 - IgG4-related sclerosing cholangitis - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 447760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 - Autosomal recessive spastic paraplegia type 9B - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 412066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 412181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 - Epidermolysis bullosa simplex due to BP230 deficiency - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 412069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 412189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 412217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217 - Dystonia-aphonia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 412206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 - Primary failure of tooth eruption - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 418959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959 - Squamous cell carcinoma of the stomach - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 418945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945 - Carcinoma of esophagus, salivary gland type - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 418951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951 - Undifferentiated carcinoma of esophagus - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 420259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259 - Secondary pulmonary alveolar proteinosis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Unknown - - - - - 415286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 - Bilirubin encephalopathy - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 420789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789 - Autoimmune encephalopathy with parasomnia and obstructive sleep apnea - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 420702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Infancy - - - - - Autosomal recessive - - - - - 420492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 - Adult-onset cervical dystonia, DYT23 type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 420485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 420556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556 - Visual snow syndrome - - Disease - - - Disorder - - - - - - Not applicable - - - - - 420402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402 - Semicircular canal dehiscence syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 420611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 - Transient myeloproliferative syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 420699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 - Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 420686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 - Woolly hair-palmoplantar keratoderma syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 420573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 - Severe combined immunodeficiency due to CTPS1 deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 420566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 - Bleeding disorder due to CalDAG-GEFI deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 423384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 - Severe congenital neutropenia due to JAGN1 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 423717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423717 - Cutaneous larva migrans - - Disease - - - Disorder - - - - - - Not applicable - - - - - 423693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect - - Clinical subtype - - - Subtype of disorder - - - - - - Multigenic/multifactorial - - - - - 423712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712 - Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy - - Clinical subtype - - - Subtype of disorder - - - - - - Multigenic/multifactorial - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - Group of disorders - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 422526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 - Hereditary clear cell renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 424065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065 - Pancreatic solid pseudopapillary neoplasm - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058 - Intraductal papillary mucinous carcinoma of pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080 - Undifferentiated carcinoma with osteoclast-like giant cells of pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073 - Serous cystadenocarcinoma of pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 - Congenital myopathy with myasthenic-like onset - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 424261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 424016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 - Adenocarcinoma of the anal canal - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 424019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 - Squamous cell carcinoma of the anal canal - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039 - Squamous cell carcinoma of pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053 - Mucinous cystadenocarcinoma of the pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046 - Acinar cell carcinoma of pancreas - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 423968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 - Squamous cell carcinoma of the small intestine - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 423994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 - Squamous cell carcinoma of the colon - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 - Squamous cell carcinoma of the rectum - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 423786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786 - Undifferentiated carcinoma of stomach - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 423894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 425120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 - STING-associated vasculopathy with onset in infancy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 424943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943 - Adenocarcinoma of the liver and intrahepatic biliary tract - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970 - Undifferentiated carcinoma of liver and intrahepatic biliary tract - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991 - Adenocarcinoma of the gallbladder and extrahepatic biliary tract - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996 - Squamous cell carcinoma of gallbladder and extrahepatic biliary tract - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975 - Squamous cell carcinoma of liver and intrahepatic biliary tract - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 424982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982 - Biliary cystadenocarcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 431353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353 - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis - - Category - - - Group of disorders - - - - All ages - - - - - - - 431341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 - Patent urachus - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 431344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 - Urachal sinus - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 431347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 - Urachal diverticulum - - Morphological anomaly - - - Disorder - - - - - - Not applicable - - - - - 431272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 - X-linked scapuloperoneal muscular dystrophy - - Disease - - - Disorder - - - - Adult - - - - - X-linked dominant - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 431255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 - Scapuloperoneal spinal muscular atrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 431149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 - Combined immunodeficiency due to OX40 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 431166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 435387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 435372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 - Anterior urethral valve - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 435329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329 - Familial ossifying fibroma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 434809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809 - Syndrome with woolly hair - - Category - - - Group of disorders - - - - Neonatal - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal recessive - - - - - 504523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 - Severe combined immunodeficiency due to LAT deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 504530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 - Combined immunodeficiency due to Moesin deficiency - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 29072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 - Hereditary pheochromocytoma-paraganglioma - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 29207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207 - Reactive arthritis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 29073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 - Multiple myeloma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 29822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822 - Spontaneous periodic hypothermia - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 30391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 - Isolated biliary atresia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - - - 320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 - Apparent mineralocorticoid excess - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724 - Idiopathic acute eosinophilic pneumonia - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 - Developmental and epileptic encephalopathy with spike-wave activation in sleep - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756 - Pseudohypoaldosteronism type 1 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 - Congenital cataract-anterior segment dysgenesis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544 - Diffuse large B-cell lymphoma - - Clinical group - - - Group of disorders - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 - Follicular lymphoma - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 88 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 - Idiopathic aplastic anemia - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 - Multiple system atrophy - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 - Primary myelofibrosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748 - Mendelian susceptibility to mycobacterial diseases - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 - Polycythemia vera - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 25980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 - X-linked myopathy with excessive autophagy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 26137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137 - Juvenile temporal arteritis - - Disease - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 505395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395 - Ventilator-induced diaphragmatic dysfunction - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 25968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 - Self-limited childhood occipital epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 26790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790 - Pseudomyxoma peritonei - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 26349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349 - Protein S acquired deficiency - - Disease - - - Disorder - - - - - - Not applicable - - - - - 831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=831 - Congenital cervical spinal stenosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 49 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 - Penile agenesis - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 - Diphallia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 - Accessory pancreas - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641 - Multifocal motor neuropathy - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 - Distal myopathy, Welander type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 505227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 - Combined immunodeficiency due to GINS1 deficiency - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 - Limb-girdle muscular dystrophy - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 - Vocal cord and pharyngeal distal myopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 - Tibial muscular dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 508410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410 - Familial intestinal malrotation - - Morphological anomaly - - - Disorder - - - - All ages - - - - - - - 508512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 508529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 506060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060 - Functioning neuroendocrine tumor of pancreas - - Category - - - Group of disorders - - - - Adult - - - Elderly - - - - - - - 506075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075 - Non-functioning neuroendocrine tumor of pancreas - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 495274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 - Charcot-Marie-Tooth disease type 2T - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 495844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 495879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 - Congenital agenesis of the scrotum - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 495930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930 - Familial monosomy 7 syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 496686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 496689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 494424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424 - Extracranial carotid artery aneurysm - - Morphological anomaly - - - Disorder - - - - Adult - - - Elderly - - - - - - - 494428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428 - Idiopathic pleuroparenchymal fibroelastosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 494451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451 - Vulvar basal cell carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 494454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454 - Vulvar adenocarcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 494444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 494448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448 - Vulvar squamous cell carcinoma - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 494418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418 - Vulvar carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 494421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421 - Sacrococcygeal teratoma - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 494547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 - Squamous cell carcinoma of the hypopharynx - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 494541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 - Childhood-onset benign chorea with striatal involvement - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 494526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 494550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 - Squamous cell carcinoma of the larynx - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 68 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68 - Amoebiasis due to free-living amoebae - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781 - Q fever - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 500159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 500163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 - Witteveen-Kolk syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 - Inherited epidermodysplasia verruciformis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 - Tick-borne encephalitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 500166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 - SIN3-related intellectual disability syndrome due to a point mutation - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182 - Chromomycosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=128 - Diphyllobothriasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210 - Cyclosporiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 76 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=76 - Strongyloidiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 74 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74 - Angiostrongyliasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108 - Babesiosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 78 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=78 - Ankylostomiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 500055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 500062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 - Infantile-onset periodic fever-panniculitis-dermatosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129 - Pseudopelade of Brocq - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 - Wagner disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 500478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 - Squamous cell carcinoma of the oropharynx - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518 - Acute megakaryoblastic leukemia - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Not applicable - - - - - 318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318 - Acute erythroid leukemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514 - Acute monoblastic/monocytic leukemia - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517 - Acute myelomonocytic leukemia - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 - Graham Little-Piccardi-Lassueur syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346 - Quinquaud folliculitis decalvans - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222 - Erosive pustular dermatosis of the scalp - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 - Woolly hair - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 500548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 - Osteosclerotic metaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 - Ringed hair disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 - Loose anagen syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345 - Dissecting cellulitis of the scalp - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591 - Furuncular myiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723 - Pneumocystosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472 - Isosporiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504 - Creeping myiasis - - Disease - - - Disorder - - - - - - Not applicable - - - - - 401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401 - Hymenolepiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400 - Cystic echinococcosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 500464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 - Squamous cell carcinoma of the nasal cavity and paranasal sinuses - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 - Acute promyelocytic leukemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 - Heterotaxia - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 - Roch-Leri mesosomatous lipomatosis - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224 - Neonatal diabetes mellitus - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826 - Sporotrichosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879 - Tungiasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 502305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 - Cochleovestibular malformation - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - - - 502318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 - Cochlear nerve deficiency - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - - - 502363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363 - Squamous cell carcinoma of the oral cavity - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 502366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366 - Squamous cell carcinoma of the lip - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - Disorder - - - - Adult - - - Infancy - - - - - Autosomal dominant - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 502434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - - - 502499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499 - Erythema multiforme major - - Disease - - - Disorder - - - - All ages - - - - - - - 502444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 - Alkaline ceramidase 3 deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 - Normosmic congenital hypogonadotropic hypogonadism - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Multigenic/multifactorial - - - X-linked recessive - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 - Estrogen resistance syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal recessive - - - - - 873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873 - Desmoid tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - Unknown - - - - - 679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 - Malignant atrophic papulosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - - - 901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901 - Wells syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703 - Bullous pemphigoid - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 - Sebocystomatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 - Peeling skin syndrome - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 - Familial multiple trichoepithelioma - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 - Porokeratosis of Mibelli - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 497906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 - Childhood-onset basal ganglia degeneration syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - X-linked recessive - - - - - 737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 - Porokeratosis plantaris palmaris et disseminata - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - X-linked dominant - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 497737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 - Epidermolytic nevus - - Disease - - - Disorder - - - - All ages - - - - - - - 314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 - Erythroderma desquamativum - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 - Lipoid proteinosis - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 - Familial keratoacanthoma - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 497188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188 - Diffuse intrinsic pontine glioma - - Disease - - - Disorder - - - - All ages - - - - - - - 454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454 - Acquired ichthyosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 - Congenital primary megaureter - - Morphological anomaly - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 - Urachal cyst - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 - Atresia of urethra - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 - Duplication of urethra - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 - Alpha delta granule deficiency - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 - Gray platelet syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 - Hypoplasminogenemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 - Congenital prekallikrein deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853 - Fetal and neonatal alloimmune thrombocytopenia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 - Congenital high-molecular-weight kininogen deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 498359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359 - Aquagenic palmoplantar keratoderma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 - X-linked thrombocytopenia with normal platelets - - Etiological subtype - - - Subtype of disorder - - - - - - X-linked recessive - - - - - 465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 - Congenital plasminogen activator inhibitor type 1 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal recessive - - - - - 310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 - Reflex epilepsy - - Clinical group - - - Group of disorders - - - - Childhood - - - - - - - 498251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 - Menstrual cycle-dependent periodic fever - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 1332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332 - Medullary thyroid carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877 - Neuroendocrine neoplasm - - Category - - - Group of disorders - - - - Adult - - - - - Unknown - - - - - 73 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 - Gorham-Stout disease - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 498228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228 - Phyllodes tumor of the prostate - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728 - Relapsing polychondritis - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 - Non-acquired combined pituitary hormone deficiency - - Category - - - Group of disorders - - - - All ages - - - - - - - 142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142 - Anaplastic thyroid carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143 - Parathyroid carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 1666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 - Dextrocardia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 1461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 - Criss-cross heart - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875 - Primary pediatric heart tumor - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 - Hereditary atrial fibrillation - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 - Familial atrial myxoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874 - Primary adult heart tumor - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 499009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009 - Congenital syphilis - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 1330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 - Partial atrioventricular septal defect - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 1677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 - Familial idiopathic dilatation of the right atrium - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Unknown - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 - Pili bifurcati - - Disease - - - Disorder - - - - Childhood - - - - - - - 671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671 - Primary cutis verticis gyrata - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864 - Trichofolliculoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 498602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 - Sugarman brachydactyly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 - Inherited arrhythmogenic cardiomyopathy - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 498693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693 - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 - Marie Unna hereditary hypotrichosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 2221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221 - Acquired hypertrichosis lanuginosa - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 498474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 - Hyaline fibromatosis syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492 - Proliferating trichilemmal cyst - - Disease - - - Disorder - - - - Adult - - - - - - - 498481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 - LRP5-related primary osteoporosis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499 - Kerion celsi - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 498485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 - Monilethrix - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525 - Lichen planopilaris - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700 - Alopecia totalis - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 - Syringocystadenoma papilliferum - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 - Huriez syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 - Erythrokeratoderma ''en cocardes'' - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 - Hyperkeratosis lenticularis perstans - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 41 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 - Dyschromatosis symmetrica hereditaria - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 38 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 - Acrokeratoelastoidosis of Costa - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 39 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39 - Acromelanosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 - Dyschromatosis universalis hereditaria - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 - Progressive symmetric erythrokeratodermia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 - Familial cylindromatosis - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658 - Non-histaminic angioedema - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 3282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282 - Multifocal atrial tachycardia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188 - Systemic capillary leak syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 - Dystrophic epidermolysis bullosa - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 - Junctional epidermolysis bullosa - - Clinical group - - - Group of disorders - - - - Adolescent - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 3406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 - Ulerythema ophryogenesis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 499182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182 - Pilomatrix carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 2908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler epidermolysis bullosa - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 81 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81 - Antisynthetase syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 - Peripartum cardiomyopathy - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764 - Pyomyositis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 - Reynolds syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 - Susac syndrome - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889 - Cutaneous small vessel vasculitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482 - Kimura disease - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 485426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426 - Isolated congenital hepatic fibrosis - - Disease - - - Disorder - - - - Neonatal - - - - - - - 486811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 486815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 485418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 - EMILIN-1-related connective tissue disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 485405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 - 16p12.1p12.3 triplication syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 485350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 - CLCN4-related X-linked intellectual disability syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - X-linked dominant - - - - - 485358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 - Propylthiouracil embryofetopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - - - 482606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 482601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 - Adenylosuccinate synthetase-like 1-related distal myopathy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 31828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828 - Digitalis poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 31837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 - Pulmonary venoocclusive disease - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - - - 480907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - X-linked recessive - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 31740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 - Hypersensitivity pneumonitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 480556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 - Isolated neonatal sclerosing cholangitis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 31826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826 - Ethylene glycol poisoning - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 480851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 - Hereditary thrombocytopenia with early-onset myelofibrosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 31827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31827 - Paraquat poisoning - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 31824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31824 - Colchicine poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 31825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31825 - Methanol poisoning - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 481665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 - USP18 deficiency - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 482077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 481662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 - Familial Chilblain lupus - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 480491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 - MYO5B-related progressive familial intrahepatic cholestasis - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 480483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 - Progressive familial intrahepatic cholestasis type 4 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 480524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524 - Idiopathic peliosis hepatis - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - - - 480536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 - MSH3-related polyposis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 480531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 - Congenital portosystemic shunt - - Morphological anomaly - - - Disorder - - - - All ages - - - - - - - 480501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501 - Choledochal cyst - - Morphological anomaly - - - Disorder - - - - All ages - - - - - - - 480520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 - Caroli syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 477781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781 - Primary condylar hyperplasia - - Disease - - - Disorder - - - - All ages - - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 477857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 - Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 477831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 - Kosaki overgrowth syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - No data available - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 478664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 - Hereditary sensory and autonomic neuropathy type 8 - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 477650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650 - Fibroblastic rheumatism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 477661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 - IL21-related infantile inflammatory bowel disease - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 477684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 - Combined oxidative phosphorylation defect type 26 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 477673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 477738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 - Pediatric multiple sclerosis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - - - 477749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 477742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 - Nodular fasciitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 476113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 - Combined immunodeficiency due to TFRC deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 476126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 476394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 - PMP2-related Charcot-Marie-Tooth disease type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 493342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 - Vibratory urticaria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 488647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 - DDX41-related hematologic malignancy predisposition syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Multigenic/multifactorial - - - - - 488650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 - Distal myopathy, Tateyama type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 488632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 488265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 - Osteofibrous dysplasia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 488239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239 - Acute macular neuroretinopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 488333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 488280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 - 14q32 duplication syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 488437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 - SIX2-related frontonasal dysplasia - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 488594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 - Autosomal recessive spastic paraplegia type 76 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 488191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 - Female infertility due to oocyte meiotic arrest - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 487814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 487809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809 - Pediatric collagenous gastritis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - - - 487825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 - Pierpont syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 31205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205 - Rat-bite fever - - Disease - - - Disorder - - - - All ages - - - - - - - 31204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204 - Nocardiosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 31202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31202 - Melioidosis - - Disease - - - Disorder - - - - All ages - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 31043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 30925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 - Hereditary arginine vasopressin deficiency - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 - CANOMAD syndrome - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 - Sandifer syndrome - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 71273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 - Renal nutcracker syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 71274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274 - Disseminated peritoneal leiomyomatosis - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 71275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 - Rh deficiency syndrome - - Disease - - - Disorder - - - - No data available - - - - - Autosomal recessive - - - - - 71276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276 - Silent sinus syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211 - Neuromyelitis optica spectrum disorder - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 558411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411 - Idiopathic gastroparesis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 70591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591 - Chronic thromboembolic pulmonary hypertension - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - Not applicable - - - - - 70592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 - Transient predisposition to invasive pyogenic bacterial infection - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 70589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 - Bronchopulmonary dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 70590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70590 - Infantile apnea - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 70596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596 - Congenital Epstein-Barr virus infection - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 70593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593 - Immunodeficiency due to selective anti-polysaccharide antibody deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Multigenic/multifactorial - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 70578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578 - Adult acute respiratory distress syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 70573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573 - Small cell lung cancer - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 70568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 - Post-transplant lymphoproliferative disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 70588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588 - Meconium aspiration syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 70567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 - Cholangiocarcinoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 70482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482 - Carcinoma of esophagus - - Clinical group - - - Group of disorders - - - - Adult - - - - - - - 70476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476 - Vernal keratoconjunctivitis - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 70475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475 - Radiation proctitis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 69744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744 - Circumscribed palmoplantar hypokeratosis - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 69745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745 - Warty dyskeratoma - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 69663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 - Low phospholipid-associated cholelithiasis - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 69665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 - Intrahepatic cholestasis of pregnancy - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 69723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 - Tyrosinemia type 3 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 69126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 - PAPA syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 69125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 - Anonychia with flexural pigmentation - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 69083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - Malformation syndrome - - - Disorder - - - - Childhood - - - Neonatal - - - - - Autosomal dominant - - - - - 69082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 - Odonto-tricho-ungual-digito-palmar syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 69084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 - Pure hair and nail ectodermal dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 69077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077 - Rhabdoid tumor - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 69078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078 - Liposarcoma - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 69061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061 - Idiopathic steroid-sensitive nephrotic syndrome - - Clinical syndrome - - - Disorder - - - - All ages - - - - - Unknown - - - - - 69063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 67048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 - 3-methylglutaconic aciduria type 4 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 69028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 - Dysostosis with brachydactyly - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 67044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 67042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 - Late-onset retinal degeneration - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 67043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043 - Amoebic keratitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 67039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039 - Segmental odontomaxillary dysplasia - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 67038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 - B-cell chronic lymphocytic leukemia - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 66662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662 - Extracutaneous mastocytoma - - Disease - - - Disorder - - - - All ages - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 66661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661 - Mast cell sarcoma - - Disease - - - Disorder - - - - All ages - - - - - - - 66646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646 - Cutaneous mastocytosis - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Not applicable - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 66633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 66630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 - Congenital pseudoarthrosis of the clavicle - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 66627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627 - Tenosynovial giant cell tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 66624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624 - PANDAS - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 66529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529 - Tako-Tsubo cardiomyopathy - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 66518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518 - Short fifth metacarpals-insulin resistance syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 562639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639 - Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 65286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286 - 3q29 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 65681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 - Vaginal atresia - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 65683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 - Isolated focal cortical dysplasia - - Disease - - - Disorder - - - - All ages - - - - - - - 65682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 - Benign recurrent intrahepatic cholestasis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 65720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720 - Arthrogryposis-severe scoliosis syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 65684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684 - Monomelic amyotrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Unknown - - - - - 65748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 - Multiple self-healing squamous epithelioma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 65753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 - Charcot-Marie-Tooth disease type 1 - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 64744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744 - IgG4-related thyroid disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 64745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745 - Pruritic urticarial papules and plaques of pregnancy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 64746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 - Autosomal dominant Charcot-Marie-Tooth disease type 2 - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - - - 64747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 - X-linked Charcot-Marie-Tooth disease - - Clinical group - - - Group of disorders - - - - - - X-linked dominant - - - X-linked recessive - - - - - 64748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 - Dejerine-Sottas syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 64749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 - Charcot-Marie-Tooth disease type 4 - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal recessive - - - - - 64751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 - Hereditary motor and sensory neuropathy type 5 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 562509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 - Heme oxygenase-1 deficiency - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 64752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 - Hereditary sensory and autonomic neuropathy type 5 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 64754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 - Nevus comedonicus syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 562538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 - Autosomal recessive extra-oral halitosis - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 64686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686 - Tolosa-Hunt syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 64542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 - Acrofacial dysostosis, Kennedy-Teebi type - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 64722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722 - Granulomatous mastitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 64720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720 - Leiomyosarcoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 64694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64694 - Trench fever - - Disease - - - Disorder - - - - All ages - - - - - - - 64692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64692 - Bartonella bacilliformis infection - - Disease - - - Disorder - - - - All ages - - - - - - - 64739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 - Ovarian hyperstimulation syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 64734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 - Iridocorneal endothelial syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 64743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743 - Hepatoportal sclerosis - - Histopathological subtype - - - Subtype of disorder - - - - All ages - - - - - - - 64742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742 - Pleuropulmonary blastoma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 64741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741 - Pulmonary blastoma - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal recessive - - - - - 63259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 - Iniencephaly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 63260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 - Craniorachischisis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 63442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 - Angel-shaped phalango-epiphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 63273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 - Distal myopathy with posterior leg and anterior hand involvement - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 63275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275 - Pemphigoid gestationis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 63454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454 - Pattern dystrophy - - Category - - - Group of disorders - - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 63455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455 - Paraneoplastic pemphigus - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 63443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443 - Rare epithelial tumor of stomach - - Category - - - Group of disorders - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 63446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 - Acrocapitofemoral dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 63999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999 - IgG4-related mediastinitis - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 63862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 - Schisis association - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 60039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039 - Pudendal nerve entrapment syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 60041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 - Congenital heart block - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 60032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032 - Recurrent respiratory papillomatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 60033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 - Idiopathic bronchiectasis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 59303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 59305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305 - Gestational trophoblastic neoplasm - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - Disorder - - - - Adult - - - - - X-linked recessive - - - - - 59298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298 - Schilder disease - - Disease - - - Disorder - - - - Childhood - - - - - - - 60015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 - Enlarged parietal foramina - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 564003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003 - Osteochondrosis of the metatarsal bone - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 60025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 - Pulmonary alveolar microlithiasis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - - - 563991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991 - Osteochondrosis of the tarsal bone - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - - - 60026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026 - Pulmonary nodular lymphoid hyperplasia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 60030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 - Loeys-Dietz syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 59315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 - Rhombencephalosynapsis - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 60014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60014 - Argyria - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 57196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196 - Medial condensing osteitis of the clavicle - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 563690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563690 - Furuncular myiasis due to Cordylobia rodhaini - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 57145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145 - SUNCT syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 563684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563684 - Furuncular myiasis due to Dermatobia hominis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 563687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563687 - Furuncular myiasis due to Cordylobia anthropophaga - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 56970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970 - Human prion disease - - Category - - - Group of disorders - - - - Adult - - - - - - - 563671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671 - Mucinous cystadenoma of childhood - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - - - - - 56425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425 - Cold agglutinin disease - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - - - 563676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676 - Seromucinous cystadenoma of childhood - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - - - - - 59181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 - Sorsby pseudoinflammatory fundus dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 59135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing distal myopathy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 58017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 - Classic hairy cell leukemia - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 57782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 - Mazabraud syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 55595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 - TNP03-related limb-girdle muscular dystrophy D2 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 55596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 - HNRNPDL-related limb-girdle muscular dystrophy D3 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 54595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 - Craniopharyngioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 54368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54368 - Sarcocystosis - - Disease - - - Disorder - - - - All ages - - - - - - - 54370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 - Primary membranoproliferative glomerulonephritis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 54272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272 - Hepatocellular adenoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 563666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666 - Serous cystadenoma of childhood - - Histopathological subtype - - - Subtype of disorder - - - - Childhood - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 563612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 - Isolated exencephaly - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - - - - - 563609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 - Isolated anencephaly - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - - - Multigenic/multifactorial - - - - - 56044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044 - Carcinoma of gallbladder and extrahepatic biliary tract - - Clinical group - - - Group of disorders - - - - Adult - - - - - Not applicable - - - - - 563589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589 - Seronegative autoimmune hepatitis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - - - 55880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 - Chondrosarcoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - Unknown - - - - - 563581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581 - Autoimmune hepatitis type 2 - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 55881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881 - Adamantinoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 563576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576 - Autoimmune hepatitis type 1 - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - - - 55654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 - Hypotrichosis simplex - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - - - - - 565909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 566067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 - CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome - - Disease - - - Disorder - - - - Adolescent - - - Neonatal - - - - - Autosomal recessive - - - - - 79234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 - Crigler-Najjar syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 79235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 - Crigler-Najjar syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 565782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565782 - Methotrexate toxicity - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 79196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 - Disorder of the gamma-glutamyl cycle - - Category - - - Group of disorders - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 - 2-aminoadipic 2-oxoadipic aciduria - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 79153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 - Idiopathic trachyonychia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 79152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 - Disseminated superficial actinic porokeratosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 79151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 - Acrokeratosis verruciformis of Hopf - - Disease - - - Disorder - - - - Adult - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 79150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 - Linear and whorled nevoid hypermelanosis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 79149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 - Dermochondrocorneal dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 79148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148 - Elastosis perforans serpiginosa - - Disease - - - Disorder - - - - All ages - - - - - - - 79147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 - Familial reactive perforating collagenosis - - Disease - - - Disorder - - - - Childhood - - - - - - - 79146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 - Familial progressive hyperpigmentation - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 79144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144 - Isolated congenital onychodysplasia - - Disease - - - Disorder - - - - Neonatal - - - - - - - 79143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 - Isolated congenital anonychia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 79172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 - Creatine deficiency syndrome - - Clinical group - - - Group of disorders - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 79168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 - Disorder of bile acid synthesis - - Category - - - Group of disorders - - - - All ages - - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Infancy - - - - - Autosomal dominant - - - - - 566231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 566243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 79118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 566393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 - Acute mast cell leukemia - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 79102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 - Thyrotoxic periodic paralysis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 79105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 - Myxofibrosarcoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 79099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099 - Interstitial granulomatous dermatitis with arthritis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 79098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098 - Sympathetic ophthalmia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 566192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 - Congenital autosomal recessive small-platelet thrombocytopenia - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 79100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 - Atrophoderma vermiculata - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - Unknown - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 79138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 - Bickerstaff brainstem encephalitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 79139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 - Japanese encephalitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 79140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140 - Cutaneous neuroendocrine carcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 79141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 - Hereditary painful callosities - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - - - 79134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 - DEND syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 79135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 - Episodic ataxia type 3 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 79136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 - Episodic ataxia type 4 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 79129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 79133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 - Focal facial dermal dysplasia type I - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 79124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 566396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 - Chronic mast cell leukemia - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 79126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126 - Acute interstitial pneumonia - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 79127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127 - Respiratory bronchiolitis-interstitial lung disease syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 79128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128 - Lymphoid interstitial pneumonia - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 77295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 - Odontoleukodystrophy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal recessive - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 77296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296 - Morgagni-Stewart-Morel syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - X-linked recessive - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 77300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 77301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 567550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550 - Idiopathic multidrug-resistant nephrotic syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 567548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548 - Idiopathic steroid-resistant nephrotic syndrome - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 567546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546 - Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance - - Clinical syndrome - - - Disorder - - - - All ages - - - - - - - 567544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544 - Idiopathic non-lupus full-house nephropathy - - Clinical syndrome - - - Disorder - - - - All ages - - - - - - - 567552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552 - Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 567564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564 - Nephrotic syndrome without extrarenal manifestations - - Category - - - Group of disorders - - - - All ages - - - - - - - 79083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 - PPARG-related familial partial lipodystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 79078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078 - IgG4-related dacryoadenitis and sialadenitis - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 79087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 - Acquired partial lipodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 79086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086 - Acquired generalized lipodystrophy - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 79085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 - AKT2-related familial partial lipodystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 79084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 - Familial partial lipodystrophy, Köbberling type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 567983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983 - Parenteral nutrition-associated cholestasis - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 79093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093 - Foix-Alajouanine syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 79091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 79088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088 - Localized lipodystrophy - - Clinical group - - - Group of disorders - - - - All ages - - - - - Unknown - - - - - 75327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 - North Carolina macular dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 75373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 - Progressive bifocal chorioretinal atrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 75374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 - Bradyopsia - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 75376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 - Familial drusen - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 75377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 - Central areolar choroidal dystrophy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 75378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 - Oligocone trichromacy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 75381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381 - Cystoid macular dystrophy - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 75382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 - Oguchi disease - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 75389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 566841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841 - Liver adenomatosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 75391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Adolescent - - - - - X-linked recessive - - - - - 75508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508 - Angioosteohypotrophic syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - Disease - - - Disorder - - - - All ages - - - - - X-linked recessive - - - - - 566943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943 - Mueller-Weiss syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 75565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565 - Tropical endomyocardial fibrosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 75564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 - Acquired idiopathic sideroblastic anemia - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 75567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567 - Primary progressive freezing gait - - Clinical syndrome - - - Disorder - - - - Adult - - - - - Unknown - - - - - 75566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566 - Loeffler endocarditis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 75857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 - 6q terminal deletion syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 75840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 - Ullrich congenital muscular dystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 77240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 - Primary lymphedema - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal recessive - - - - - 73271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 - Bleeding diathesis due to a collagen receptor defect - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 73263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73263 - Zygomycosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 73267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267 - Non-24-hour sleep-wake syndrome - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 73256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256 - Central neurocytoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 73260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260 - Paracoccidioidomycosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 73246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 73423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423 - Acute ackee fruit intoxication - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 75326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 - Familial isolated retinal arteriolar tortuosity - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Unknown - - - - - 75249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 - Familial isolated restrictive cardiomyopathy - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 568062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 - Familial thrombocytosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - X-linked recessive - - - - - 71505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505 - Cancer-associated retinopathy - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 71526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 - Obesity due to pro-opiomelanocortin deficiency - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 71529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 - Obesity due to melanocortin 4 receptor deficiency - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 569164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 - Angiomatoid fibrous histiocytoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 71517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 - Rapid-onset dystonia-parkinsonism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 71518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 - Benign paroxysmal torticollis of infancy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - Unknown - - - - - 71519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519 - Psychogenic movement disorders - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 569248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 - Microcystic stromal tumor - - Disease - - - Disorder - - - - Adult - - - - - - - 73229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 - HANAC syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 73245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 73217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 - Müllerian aplasia - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 73014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 - Intractable diarrhea of infancy - - Category - - - Group of disorders - - - - Childhood - - - - - - - 73223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 - Global developmental delay-osteopenia-ectodermal defect syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Unknown - - - - - 40366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366 - Acitretin/etretinate embryopathy - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 40923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923 - Eales disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 39812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812 - Graft versus host disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 39041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 - Omenn syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 530838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 - KRT1-related diffuse nonepidermolytic keratoderma - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 39044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 - Uveal melanoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 530792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792 - RELA fusion-positive ependymoma - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 38874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 - Dihydropyrimidinuria - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 37748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748 - Schnitzler syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 530303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 - Progressive dementia with neuroserpin inclusion bodies - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - - - 530298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 37202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202 - Interstitial cystitis - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 36913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36913 - Autoimmune hypoparathyroidism - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Not applicable - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 531151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 - 9q21.13 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 530983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 - Lamb-Shaffer syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 530995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995 - Mixed phenotype acute leukemia - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 41751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 - Bietti crystalline dystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 42062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 - Iminoglycinuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 35705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 - Neurometabolic disorder due to serine deficiency - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - Disorder - - - - Childhood - - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 - Primary lateral sclerosis - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 35701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 35698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 - Mitochondrial DNA depletion syndrome - - Category - - - Group of disorders - - - - All ages - - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 35687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687 - Erdheim-Chester disease - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - Not applicable - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - Group of disorders - - - - All ages - - - - - Autosomal recessive - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 35125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 - Epidermal nevus syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 35121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 - Lysosomal acid phosphatase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 36388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36388 - Paraneoplastic neurologic syndrome - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 36397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397 - Adiposis dolorosa - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Not applicable - - - - - 36412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 - Hypocomplementemic urticarial vasculitis - - Disease - - - Disorder - - - - Adult - - - Childhood - - - - - Autosomal recessive - - - Not applicable - - - - - 36426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 - Stevens-Johnson syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 36355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 - Bleeding disorder due to P2Y12 defect - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - - - 36383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 - COL4A1/2-related familial vascular leukoencephalopathy - - Disease - - - Disorder - - - - - - Autosomal dominant - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 36234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36234 - Bacterial toxic-shock syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 36236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36236 - Staphylococcal scalded skin syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 36235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36235 - Staphylococcal scarlet fever - - Disease - - - Disorder - - - - All ages - - - - - - - 36238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238 - Staphylococcal necrotizing pneumonia - - Disease - - - Disorder - - - - Childhood - - - - - Not applicable - - - - - 36237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237 - Bullous impetigo - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 36273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273 - Gastric linitis plastica - - Disease - - - Disorder - - - - Adult - - - - - - - 36258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258 - Buerger disease - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 35808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808 - Malignant sex cord stromal tumor of ovary - - Category - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 35807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807 - Malignant germ cell tumor of ovary - - Category - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Unknown - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 35909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 - Combined deficiency of factor V and factor VIII - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - - - 35889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35889 - Acute opioid intoxication - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 36204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 - Intestinal lymphangiectasia - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - X-linked dominant - - - - - 33572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 - 5-oxoprolinase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 33543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 - Kleine-Levin syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - - - 33475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475 - Meningococcal meningitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 33408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408 - Bullous lichen planus - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 33402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 - Pediatric hepatocellular carcinoma - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Not applicable - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 34149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 - Autosomal dominant tubulointerstitial kidney disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 33577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577 - Nodular non-suppurative panniculitis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 33573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 - Gamma-glutamyl transpeptidase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 33110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 - Autosomal non-syndromic agammaglobulinemia - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 33111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 - Granulomatous slack skin - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 33067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 - Metaphyseal chondrodysplasia, Jansen type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 33355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 - Reticular dysgenesis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - Etiological subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - X-linked recessive - - - - - 33276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276 - Kaposi sarcoma - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 33314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314 - Jessner lymphocytic infiltration of the skin - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 33208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208 - Idiopathic hypersomnia - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 33226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 - Waldenström macroglobulinemia - - Disease - - - Disorder - - - - Elderly - - - - - Multigenic/multifactorial - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 35078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 - T-B+ severe combined immunodeficiency due to JAK3 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 35062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35062 - Severe disseminated cytomegalovirus infection in immunocompetent patients - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 34520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 34514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 34516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 - DNAJB6-related limb-girdle muscular dystrophy D1 - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - Disorder - - - - Childhood - - - - - X-linked dominant - - - - - 34592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 - Immunodeficiency by defective expression of MHC class I - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 34533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533 - Corneal dystrophy - - Category - - - Group of disorders - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - Not applicable - - - X-linked recessive - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 536471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 - Spondylodysplastic Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - Subtype of disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 536545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 537072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072 - PLG-related hereditary angioedema with normal C1Inh - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Autosomal dominant - - - - - 32960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 - Tumor necrosis factor receptor 1 associated periodic syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 52530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 - Pseudo-von Willebrand disease - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 52688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 - Myelodysplastic syndrome - - Clinical group - - - Group of disorders - - - - All ages - - - - - - - 52429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 - Branchiootic syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 538096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096 - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - X-linked recessive - - - - - 538101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101 - Congenital axonal neuropathy with encephalopathy - - Disease - - - Disorder - - - - Neonatal - - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 52416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 - Mantle cell lymphoma - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 52427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 - Retinitis punctata albescens - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 52417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 - MALT lymphoma - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked recessive - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 53296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 - Familial cutaneous collagenoma - - Disease - - - Disorder - - - - Adolescent - - - - - Autosomal dominant - - - - - 53347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 - Brody myopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 52994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994 - Orbital leiomyoma - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - - - 52901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 - Isolated follicle stimulating hormone deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 53689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 - Congenital chloride diarrhea - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 538863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863 - Classic pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 538756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 - Familial multiple discoid fibromas - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 538574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 53583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 53540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 - Goldmann-Favre syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 53372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 - Hereditary geniospasm - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 53351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 - X-linked dystonia-parkinsonism - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - X-linked recessive - - - - - 54260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 - Left ventricular noncompaction - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Mitochondrial inheritance - - - X-linked recessive - - - - - 54247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 - Posterior cortical atrophy - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 538934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 54251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251 - Aseptic abscess syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Not applicable - - - - - 538931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 - X-linked lymphoproliferative disease due to SAP deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 54057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057 - Thrombotic thrombocytopenic purpura - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Multigenic/multifactorial - - - - - 54028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 - Plummer-Vinson syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 53719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719 - Cerebrofacial arteriovenous metameric syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 53721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 - Spinal arteriovenous metameric syndrome - - Malformation syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 53698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 - Myosin storage myopathy - - Disease - - - Disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 53696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 - Arthrogryposis-anterior horn cell disease syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 538872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 - Vegetative pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 538869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869 - Bullous pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 538866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 - Pustular pyoderma gangrenosum - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Multigenic/multifactorial - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Autosomal recessive - - - - - 49041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041 - IgG4-related retroperitoneal fibrosis - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - Unknown - - - - - 48918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918 - Focal myositis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 49382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 - Achromatopsia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 49042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 - Dentinogenesis imperfecta - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 538958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 - Combined immunodeficiency due to CD70 deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 538963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 - Combined immunodeficiency due to ITK deficiency - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal recessive - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - - - 48435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435 - Postinfectious vasculitis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 48686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686 - Primary effusion lymphoma - - Disease - - - Disorder - - - - Adult - - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - Unknown - - - - - 50809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 - Talo-patello-scaphoid osteolysis - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 50810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 - Microlissencephaly-micromelia syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 50812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 - Zellweger-like syndrome without peroxisomal anomalies - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - Mitochondrial inheritance - - - - - 50814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 - Craniolenticulosutural dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 49566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 - Acquired purpura fulminans - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 49804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804 - Lichen amyloidosis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 50251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251 - Pleural mesothelioma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 51083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 - Congenital short QT syndrome - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 50839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50839 - Cat-scratch disease - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 50943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 - Keratolytic winter erythema - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 50942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 - Striate palmoplantar keratoderma - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 50918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918 - Kikuchi-Fujimoto disease - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 52054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 - Craniosynostosis-intracranial calcifications syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 52047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 - Braddock syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 51608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 - Generalized arterial calcification of infancy - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 541423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 - Growth delay-intellectual disability-hepatopathy syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 51636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 - WHIM syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 51890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890 - Anterior cutaneous nerve entrapment syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 542301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 - Combined immunodeficiency due to CARMIL2 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 542310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 - Leukoencephalopathy with calcifications and cysts - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 42642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642 - PFAPA syndrome - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Unknown - - - - - 42665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 - Tietz syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 542323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323 - CAR T cell therapy-associated cytokine release syndrome - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Adult - - - - - - - 43117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117 - Acute tricyclic antidepressant poisoning - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 43116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116 - Serotonin syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 542592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592 - Necrobiosis lipoidica - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 43393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 - Lambert-Eaton myasthenic syndrome - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 43119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119 - Acute poisoning by drugs with membrane-stabilizing effect - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 542643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643 - Livedoid vasculopathy - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 42738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 - Severe congenital neutropenia - - Clinical group - - - Group of disorders - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 45448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 - Miyoshi myopathy - - Disease - - - Disorder - - - - Adult - - - - - Autosomal recessive - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 45453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453 - Incessant infant ventricular tachycardia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Not applicable - - - - - 45452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 - Idiopathic neonatal atrial flutter - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 542657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 - Isolated hyperchlorhidrosis - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 44890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 - Gastrointestinal stromal tumor - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - Not applicable - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 46487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487 - Epidermolysis bullosa acquisita - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 544254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 - SYNGAP1-related developmental and epileptic encephalopathy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 46488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488 - Linear IgA dermatosis - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 46485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485 - Superficial pemphigus - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 46486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 - Mucous membrane pemphigoid - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 46348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 - Paroxysmal extreme pain disorder - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 46484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484 - Oligodendroglial tumor - - Clinical group - - - Group of disorders - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 46135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 - Primary central nervous system lymphoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - Not applicable - - - - - 47044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 - Hereditary papillary renal cell carcinoma - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 46724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 - Cerebral arteriovenous malformation - - Morphological anomaly - - - Disorder - - - - All ages - - - - - No data available - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 46532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 48372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372 - Nodular regenerative hyperplasia of the liver - - Histopathological subtype - - - Subtype of disorder - - - - Adult - - - - - Not applicable - - - - - 48162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162 - Lewis-Sumner syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 544493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493 - Streptococcus pneumoniae-associated hemolytic uremic syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - - - 48104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104 - Pyoderma gangrenosum - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Unknown - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 47612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612 - Felty syndrome - - Disease - - - Disorder - - - - Adult - - - - - Unknown - - - - - 544482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482 - Infection-related hemolytic uremic syndrome - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 47159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 - Proximal renal tubular acidosis - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 544472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - Etiological subtype - - - Subtype of disorder - - - - All ages - - - - - - - 47045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 - Familial cold urticaria - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 544602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 - Congenital myopathy with reduced type 2 muscle fibers - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 48377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377 - Subcorneal pustular dermatosis - - Disease - - - Disorder - - - - Adult - - - - - Not applicable - - - - - 544578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 - Congenital primary megaureter, refluxing and obstructed form - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 555434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434 - Fibrohistiocytic inflammatory pseudotumor of the liver - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 555437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437 - Lymphoplasmacytic inflammatory pseudotumor of the liver - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 555874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 - Congenital tricuspid valve dysplasia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Neonatal - - - - - - - 555877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 - FLNA-related X-linked myxomatous valvular dysplasia - - Morphological anomaly - - - Disorder - - - - Neonatal - - - - - X-linked recessive - - - - - 555905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905 - IgA pemphigus - - Disease - - - Disorder - - - - All ages - - - - - - - 556030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030 - Early-onset familial hypoaldosteronism - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 556037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037 - Late-onset familial hypoaldosteronism - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - Disorder - - - - Adolescent - - - Antenatal - - - Childhood - - - - - Autosomal recessive - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 90065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065 - Acquired aneurysmal subarachnoid hemorrhage - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066 - Pneumonia caused by Pseudomonas aeruginosa infection - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068 - Cocaine intoxication - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062 - Acute liver failure - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 90064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064 - Acute peripheral arterial occlusion - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073 - Hepatitis B reinfection following liver transplantation - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076 - Partial deep dermal and full thickness burns - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069 - Systemic monochloroacetate poisoning - - Disease - - - Disorder - - - - All ages - - - - - - - 90050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050 - Retinopathy of prematurity - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052 - Recurrent hepatitis C virus induced liver disease in liver transplant recipients - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051 - Sepsis in premature infants - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - Neonatal - - - - - Not applicable - - - - - 90041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 - Gaisböck syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 90039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 - Hemoglobin D disease - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 90044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 - Familial pseudohyperkalemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 90042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 - Primary familial polycythemia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 90058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058 - Spinal cord injury - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060 - Diffuse alveolar hemorrhage - - Clinical syndrome - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 90059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059 - Sudden sensorineural hearing loss - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053 - Complications after hematopoietic stem cell transplantation - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056 - Moderate and severe traumatic brain injury - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 - Deafness with labyrinthine aplasia, microtia, and microdontia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 - Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003 - Inflammatory pseudotumor of the liver - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037 - Drug-induced autoimmune hemolytic anemia - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 90038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038 - Shiga toxin-associated hemolytic uremic syndrome - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Not applicable - - - - - 90035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035 - Paroxysmal cold hemoglobinuria - - Disease - - - Disorder - - - - Childhood - - - - - Multigenic/multifactorial - - - - - 90036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036 - Mixed-type autoimmune hemolytic anemia - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 90031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 90033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033 - Autoimmune hemolytic anemia, warm type - - Disease - - - Disorder - - - - All ages - - - - - Multigenic/multifactorial - - - - - 90026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 - Primary erythromelalgia - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - - - 90030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 - Hemolytic anemia due to glutathione reductase deficiency - - Disease - - - Disorder - - - - No data available - - - - - Autosomal recessive - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - X-linked dominant - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 89843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 - Dystrophic epidermolysis bullosa pruriginosa - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 90001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 - X-linked cone dysfunction syndrome with myopia - - Disease - - - Disorder - - - - Childhood - - - - - X-linked recessive - - - - - 90000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000 - Erythema elevatum diutinum - - Disease - - - Disorder - - - - All ages - - - - - Unknown - - - - - 89938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 - Bartter syndrome type 4 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal recessive - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - Group of disorders - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 - Primary intestinal lymphangiectasia - - Disease - - - Disorder - - - - All ages - - - - - - - 90363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 - Secondary intestinal lymphangiectasia - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 90289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 - Localized scleroderma - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - Disease - - - Disorder - - - - Adult - - - - - - - 90291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 - Systemic sclerosis - - Disease - - - Disorder - - - - Adult - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - Not applicable - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156 - Centrifugal lipodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 90157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157 - Drug-induced localized lipodystrophy - - Disease - - - Disorder - - - - All ages - - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160 - Pressure-induced localized lipoatrophy - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 90158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158 - Idiopathic localized lipodystrophy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - - - 90159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159 - Panniculitis-induced localized lipodystrophy - - Disease - - - Disorder - - - - All ages - - - - - - - 90280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 - Chilblain lupus - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - Not applicable - - - - - 90281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281 - Discoid lupus erythematosus - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - - - Not applicable - - - - - 90285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285 - Lupus erythematosus panniculitis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - Infancy - - - - - - - 90283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283 - Lupus erythematosus tumidus - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - - - 90080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080 - Scarring in glaucoma filtration surgical procedures - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078 - Invasive infections due to vancomycin-resistant enterococci - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 90103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 514980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980 - ATP13A2-related parkinsonism - - Clinical group - - - Group of disorders - - - - Adolescent - - - Childhood - - - - - - - 90081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081 - AIDS wasting syndrome - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 90118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 - Severe early-onset axonal neuropathy due to MFN2 deficiency - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 90117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 - Hereditary motor and sensory neuropathy, Okinawa type - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 90114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease - - Clinical group - - - Group of disorders - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 90120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 - Hereditary motor and sensory neuropathy type 6 - - Disease - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 90119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 - Hereditary motor and sensory neuropathy with acrodystrophy - - Disease - - - Disorder - - - - - - Autosomal recessive - - - - - 525677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525677 - Genetic congenital malformation of the eye with glaucoma as a major feature - - Category - - - Group of disorders - - - - Neonatal - - - - - - - 525731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525731 - Pediatric-onset Graves disease - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - - - 523000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523000 - Pediatric-onset glaucoma - - Category - - - Group of disorders - - - - Adolescent - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 88673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673 - Hepatocellular carcinoma - - Clinical group - - - Group of disorders - - - - All ages - - - - - Not applicable - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - Disorder - - - - Adult - - - Childhood - - - Neonatal - - - - - Autosomal recessive - - - - - 88659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 - Autosomal dominant progressive nephropathy with hypertension - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - - - 88661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 - Amelogenesis imperfecta - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked dominant - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 88642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 88643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Unknown - - - - - 88632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 - Anterior segment developmental anomaly - - Category - - - Group of disorders - - - - Neonatal - - - - - Autosomal dominant - - - - - 88635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - Disease - - - Disorder - - - - Adult - - - - - Autosomal dominant - - - Unknown - - - - - 88621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 - Ichthyosis-prematurity syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 88629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 - Tritanopia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - X-linked dominant - - - - - 88620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 - Isolated congenital anosmia - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - X-linked recessive - - - - - 88619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 - Familial acute necrotizing encephalopathy - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 88616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 - Autosomal recessive non-syndromic intellectual disability - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 87884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 - Non-syndromic genetic deafness - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - Disorder - - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 87503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 - Mal de Meleda - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 86919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 - Keratosis palmaris et plantaris-clinodactyly syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 86918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 - Diffuse palmoplantar keratoderma-acrocyanosis syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 86915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 - Lymphedema-atrial septal defects-facial changes syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 86913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 - Myoclonic epilepsy in non-progressive encephalopathies - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 86914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 - Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome - - Malformation syndrome - - - Disorder - - - - Adolescent - - - - - - - 86909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 - Myoclonic epilepsy of infancy - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 86911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 - Epilepsy with myoclonic absences - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Multigenic/multifactorial - - - - - 521450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450 - LAMA5-related multisystemic syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 521445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 86900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900 - Interdigitating dendritic cell sarcoma - - Disease - - - Disorder - - - - Adult - - - - - - - 521432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 86902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902 - Follicular dendritic cell sarcoma - - Disease - - - Disorder - - - - All ages - - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 86896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896 - Histiocytic sarcoma - - Disease - - - Disorder - - - - Adult - - - - - - - 521414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 86897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897 - Langerhans cell sarcoma - - Disease - - - Disorder - - - - All ages - - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - Malformation syndrome - - - Disorder - - - - Childhood - - - Infancy - - - - - - - 521305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 - Proximal myopathy with focal depletion of mitochondria - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Mitochondrial inheritance - - - - - 521308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308 - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal recessive - - - - - 89838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 - Autosomal recessive generalized epidermolysis bullosa simplex - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - Disease - - - Disorder - - - - Adolescent - - - Infancy - - - - - Autosomal recessive - - - - - 521219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219 - Mirizzi syndrome - - Clinical syndrome - - - Disorder - - - - Adult - - - Elderly - - - - - - - 88949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal dominant - - - - - 88950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - - - 88940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 - Pseudohypoaldosteronism type 2C - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 88939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 - Pseudohypoaldosteronism type 2B - - Etiological subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - - - 88924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - - - X-linked dominant - - - - - 93256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 - Fragile X-associated tremor/ataxia syndrome - - Malformation syndrome - - - Disorder - - - - Adult - - - - - X-linked dominant - - - - - 528105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal recessive - - - - - 528091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - Disease - - - Disorder - - - - Neonatal - - - - - - - 528084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 - Non-specific syndromic intellectual disability - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 93267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - - - Autosomal dominant - - - - - 93276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 - Polyostotic fibrous dysplasia - - Clinical subtype - - - Subtype of disorder - - - - - - Unknown - - - - - 93277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 - Monostotic fibrous dysplasia - - Clinical subtype - - - Subtype of disorder - - - - - - Not applicable - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Not applicable - - - - - 93108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 - Renal dysplasia - - Morphological anomaly - - - Disorder - - - - All ages - - - Antenatal - - - - - Autosomal dominant - - - Not applicable - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal recessive - - - - - 93101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 - Renal hypoplasia - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 93110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 - Posterior urethral valve - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - Not applicable - - - X-linked recessive - - - - - 93109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 - Congenital megacalycosis - - Morphological anomaly - - - Disorder - - - - All ages - - - - - Unknown - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal recessive - - - - - 91547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91547 - Relapsing fever - - Disease - - - Disorder - - - - All ages - - - - - Not applicable - - - - - 93100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 - Renal agenesis, unilateral - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - Antenatal - - - - - Autosomal dominant - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 - Hypocalcemic vitamin D-resistant rickets - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93164 - Transient pseudohypoaldosteronism - - Disease - - - Disorder - - - - Infancy - - - - - Not applicable - - - - - 93114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - Disease - - - Disorder - - - - No data available - - - - - Autosomal dominant - - - Not applicable - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Antenatal - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126 - Pauci-immune glomerulonephritis - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - Childhood - - - Elderly - - - - - Not applicable - - - - - 93172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 - Renal dysplasia, unilateral - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 93173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 - Renal dysplasia, bilateral - - Clinical subtype - - - Subtype of disorder - - - - All ages - - - - - Autosomal dominant - - - Not applicable - - - - - 93322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 - Isolated tibial hemimelia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - Not applicable - - - - - 93321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 - Isolated radial hemimelia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Multigenic/multifactorial - - - X-linked recessive - - - - - 93320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 - Isolated ulnar hemimelia - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 93323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 - Isolated fibular hemimelia - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Not applicable - - - - - 93329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 - Autosomal recessive omodysplasia - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 - Autosomal dominant omodysplasia - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 - Polydactyly of a triphalangeal thumb - - Morphological anomaly - - - Disorder - - - - - - Autosomal dominant - - - - - 93335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 - Postaxial polydactyly type B - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Autosomal dominant - - - - - 93334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 - Postaxial polydactyly type A - - Morphological anomaly - - - Disorder - - - - Antenatal - - - - - Autosomal recessive - - - - - 93333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 - Pelviscapular dysplasia - - Malformation syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 - Polydactyly of a biphalangeal thumb and/or hallux - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 - Polydactyly of an index finger - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - - - 93338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 - Polysyndactyly - - Morphological anomaly - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 - X-linked spondyloepimetaphyseal dysplasia - - Disease - - - Disorder - - - - - - X-linked recessive - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 - Anauxetic dysplasia - - Disease - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 93351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 - Spondyloepimetaphyseal dysplasia, Irapa type - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 93352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - Disease - - - Disorder - - - - Antenatal - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 93284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 - Spondyloepiphyseal dysplasia tarda - - Disease - - - Disorder - - - - Adolescent - - - Adult - - - - - Autosomal dominant - - - Autosomal recessive - - - X-linked recessive - - - - - 93292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 - Adenoma of pancreas - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal dominant - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - Clinical subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 - Achondrogenesis type 1A - - Clinical subtype - - - Subtype of disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 93302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 - Brachyolmia, Maroteaux type - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - Malformation syndrome - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal recessive - - - - - 93308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 - Multiple epiphyseal dysplasia type 1 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 93311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 - Multiple epiphyseal dysplasia type 5 - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - Disorder - - - - Adolescent - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 93317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Autosomal recessive - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - Malformation syndrome - - - Disorder - - - - Antenatal - - - Neonatal - - - - - Not applicable - - - - - 529864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864 - Secondary erythromelalgia - - Disease - - - Disorder - - - - All ages - - - - - - - 529852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 - Combined hepatocellular carcinoma and cholangiocarcinoma - - Disease - - - Disorder - - - - Adult - - - Elderly - - - - - - - 90673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 - Hypothyroidism due to TSH receptor mutations - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 529831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831 - Letrozole toxicity - - Particular clinical situation in a disease or syndrome - - - Disorder - - - - All ages - - - - - - - 529808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 - Chronic bilirubin encephalopathy - - Clinical syndrome - - - Disorder - - - - Infancy - - - Neonatal - - - - - Not applicable - - - - - 90658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 - Charcot-Marie-Tooth disease type 1E - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - - - Autosomal dominant - - - - - 529799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 - Acute bilirubin encephalopathy - - Clinical syndrome - - - Disorder - - - - Neonatal - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - Disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 529980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - Disease - - - Disorder - - - - Infancy - - - - - - - 530033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 - Dermoid or epidermoid cyst of the central nervous system - - Morphological anomaly - - - Disorder - - - - Adult - - - - - - - 529977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - Disease - - - Disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - Disorder - - - - All ages - - - - - Autosomal recessive - - - X-linked recessive - - - - - 529965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - Disorder - - - - Infancy - - - - - Autosomal dominant - - - - - 529970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970 - Male infertility due to acephalic spermatozoa - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - - - Autosomal recessive - - - - - 90400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400 - Scleromyxedema without monoclonal gammopathy - - Clinical subtype - - - Subtype of disorder - - - - Adolescent - - - Adult - - - Elderly - - - - - - - 90625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 - Rare X-linked non-syndromic sensorineural deafness type DFN - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - - - X-linked recessive - - - - - 90635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA - - Etiological subtype - - - Subtype of disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 90636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 - Rare autosomal recessive non-syndromic sensorineural deafness type DFNB - - Etiological subtype - - - Subtype of disorder - - - - Infancy - - - Neonatal - - - - - Autosomal recessive - - - - - 529468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468 - Monoclonal mast cell activation syndrome - - Disease - - - Disorder - - - - All ages - - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - Disorder - - - - Neonatal - - - - - Autosomal dominant - - - - - 90398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398 - Localized lichen myxedematosus with mixed features of different subtypes - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 90399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399 - Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms - - Clinical subtype - - - Subtype of disorder - - - - Adult - - - Elderly - - - - - - - 90368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 - Hypotrichosis simplex of the scalp - - Disease - - - Disorder - - - - Childhood - - - - - Autosomal dominant - - - - - 90389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 - Telangiectasia macularis eruptiva perstans - - Clinical subtype - - - Subtype of disorder - - - - - - Unknown - - - - - 90390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 - Anonychia-onychodystrophy syndrome - - Clinical subtype - - - Subtype of disorder - - - - - - Autosomal dominant - - - Autosomal recessive - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - Subtype of disorder - - - - Childhood - - - Infancy - - - Neonatal - - - - - Autosomal dominant - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - Disorder - -