Ontology Diff Summary Diff date: 2026/07/01 09:38:49 First ontology URI: /mnt/c/Users/dlagorce/Orphanet/Ontologies/ORDO/generation/previous_version/ORDO_en_4.8.owl Second ontology URI: /mnt/c/Users/dlagorce/Orphanet/Ontologies/ORDO/generation/last_version/ORDO_en_4.9.owl Number of classes changed: 912 Number of classes added: 280 Number of classes deleted: 20 ################ @Classes modified from previous Class: http://www.orpha.net/ORDO/Orphanet_481665 Label(s): Pseudo-TORCH syndrome type 2 - 'Pseudo-TORCH syndrome type 2' SubClassOf 'part_of' some 'Rare genetic neurological disorder' - 'Pseudo-TORCH syndrome type 2' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Pseudo-TORCH syndrome type 2' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pseudo-TORCH syndrome type 2' SubClassOf 'part_of' some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_90058 Label(s): Spinal cord injury - 'Spinal cord injury' SubClassOf 'part_of' some 'Rare neurologic disease' + 'Spinal cord injury' SubClassOf 'part_of' some 'Medullar disease' Class: http://www.orpha.net/ORDO/Orphanet_90041 Label(s): Gaisböck syndrome - 'Gaisböck syndrome' SubClassOf 'Disease' - 'Gaisböck syndrome' SubClassOf 'Disorder' - 'Gaisböck syndrome' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Gaisböck syndrome' SubClassOf 'part_of' some 'Acquired secondary polycythemia' + 'Gaisböck syndrome' SubClassOf 'Obsolete disorder' + 'Gaisböck syndrome' SubClassOf 'referred to' some 'Polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_436182 Label(s): Microcephalic primordial dwarfism-insulin resistance syndrome + 'Microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_435998 Label(s): Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2617 Label(s): Microcephalic primordial dwarfism, Montreal type - 'Microcephalic primordial dwarfism, Montreal type' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephalic primordial dwarfism, Montreal type' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Microcephalic primordial dwarfism, Montreal type' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_98666 Label(s): OBSOLETE: Unclassified primitive or secondary maculopathy - 'OBSOLETE: Unclassified primitive or secondary maculopathy' SubClassOf 'referred to' some 'OBSOLETE: Inherited retinal disorder' + 'OBSOLETE: Unclassified primitive or secondary maculopathy' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98669 Label(s): OBSOLETE: Congenital vitreoretinal dysplasia - 'OBSOLETE: Congenital vitreoretinal dysplasia' SubClassOf 'referred to' some 'OBSOLETE: Syndromic vitreoretinopathy' + 'OBSOLETE: Congenital vitreoretinal dysplasia' SubClassOf 'referred to' some 'Vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_714496 Label(s): Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome + 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_714493 Label(s): Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Genetic immune deficiency with skin involvement' + 'Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency' SubClassOf 'part_of' some 'Rare disorder potentially indicated for hematopoietic stem cell transplant' Class: http://www.orpha.net/ORDO/Orphanet_714490 Label(s): PERCC1-related congenital intractable malabsorptive diarrhea - 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' + 'PERCC1-related congenital intractable malabsorptive diarrhea' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_714487 Label(s): Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome + 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' SubClassOf 'part_of' some 'Genetic intractable diarrhea of infancy' + 'Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome' SubClassOf 'part_of' some 'Intractable diarrhea of infancy' Class: http://www.orpha.net/ORDO/Orphanet_714484 Label(s): AGR2-related infantile-onset inflammatory bowel disease - 'AGR2-related infantile-onset inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_714481 Label(s): SCGN-related severe early-onset hereditary ulcerative colitis - 'SCGN-related severe early-onset hereditary ulcerative colitis' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_714472 Label(s): Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome + 'Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_83597 Label(s): Acute disseminated encephalomyelitis - 'Acute disseminated encephalomyelitis' SubClassOf 'part_of' some 'Multiple sclerosis variant' Class: http://www.orpha.net/ORDO/Orphanet_119140 Label(s): calcium voltage-gated channel subunit alpha1 C - 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' - 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' + 'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727156 Class: http://www.orpha.net/ORDO/Orphanet_95854 Label(s): Levocardia - 'Levocardia' SubClassOf 'Disorder' - 'Levocardia' SubClassOf 'part_of' some 'Visceral heterotaxy' - 'Levocardia' SubClassOf 'Morphological anomaly' + 'Levocardia' SubClassOf 'referred to' some 'Heart position anomaly' + 'Levocardia' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_699835 Label(s): Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'part_of' some 'Classic organic aciduria' + 'Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic cataract' Class: http://www.orpha.net/ORDO/Orphanet_79134 Label(s): DEND syndrome - 'DEND syndrome' SubClassOf 'part_of' some 'Metabolic diseases with epilepsy' + 'DEND syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_692790 Label(s): ATP6AP1-CDG + 'ATP6AP1-CDG' SubClassOf 'part_of' some 'Common variable immunodeficiency phenotype due to germinal monogenic mutation' Class: http://www.orpha.net/ORDO/Orphanet_714423 Label(s): Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome + 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome' SubClassOf 'part_of' some 'Rare syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_714413 Label(s): 9p23p22.2 microdeletion syndrome + '9p23p22.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 9 syndrome' + '9p23p22.2 microdeletion syndrome' SubClassOf 'part_of' some 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714410 Label(s): CARD8-related inflammatory bowel disease - 'CARD8-related inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_269553 Label(s): Genetic cerebral malformation - 'Genetic cerebral malformation' SubClassOf 'Genetic non-syndromic central nervous system malformation' + 'Genetic cerebral malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_730707 Class: http://www.orpha.net/ORDO/Orphanet_714407 Label(s): Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation' SubClassOf 'part_of' some 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714404 Label(s): Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_717268 Label(s): Circumscribed astrocytic glioma - 'Circumscribed astrocytic glioma' SubClassOf 'Astrocytoma' + 'Circumscribed astrocytic glioma' SubClassOf 'Glial tumor' Class: http://www.orpha.net/ORDO/Orphanet_1401 Label(s): CHAND syndrome + 'CHAND syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_293928 Label(s): sodium voltage-gated channel alpha subunit 8 - 'sodium voltage-gated channel alpha subunit 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial infantile myoclonic epilepsy' + 'sodium voltage-gated channel alpha subunit 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Myoclonic epilepsy of infancy' Class: http://www.orpha.net/ORDO/Orphanet_600291 Label(s): H4 clustered histone 3 - 'H4 clustered histone 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'H4 clustered histone 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_66634 Label(s): Dilated cardiomyopathy with ataxia + 'Dilated cardiomyopathy with ataxia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_663910 Label(s): ciliated left-right organizer metallopeptidase - 'ciliated left-right organizer metallopeptidase' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_217390 Label(s): Combined immunodeficiency due to DOCK8 deficiency + 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_118908 Label(s): ATRX chromatin remodeler + 'ATRX chromatin remodeler' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726004 + 'ATRX chromatin remodeler' SubClassOf 'biomarker tested in' some 'High-grade astrocytoma with piloid features' Class: http://www.orpha.net/ORDO/Orphanet_363558 Label(s): New-onset refractory status epilepticus - 'New-onset refractory status epilepticus' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_233032 Label(s): LDL receptor related protein 4 - 'LDL receptor related protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'LDL receptor related protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' Class: http://www.orpha.net/ORDO/Orphanet_201171 Label(s): forkhead box P1 - 'forkhead box P1' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_98260 Label(s): Adolescent-onset epilepsy syndrome - 'Adolescent-onset epilepsy syndrome' SubClassOf 'Group of disorders' - 'Adolescent-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' + 'Adolescent-onset epilepsy syndrome' SubClassOf 'Obsolete group of disorder' + 'Adolescent-onset epilepsy syndrome' SubClassOf 'referred to' some 'Epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_436166 Label(s): Periodic fever-infantile enterocolitis-autoinflammatory syndrome - 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'part_of' some 'Rare intestinal disease' + 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_613312 Label(s): ankyrin repeat domain 17 - 'ankyrin repeat domain 17' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'ankyrin repeat domain 17' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-recurrent infections-facial dysmorphism syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119194 Label(s): caveolin 3 - 'caveolin 3' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_122913 Label(s): keratin 5 + 'keratin 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive generalized epidermolysis bullosa simplex' Class: http://www.orpha.net/ORDO/Orphanet_391487 Label(s): STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + 'STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_436252 Label(s): Combined immunodeficiency-multiple intestinal atresia + 'Combined immunodeficiency-multiple intestinal atresia' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_663850 Label(s): N-ribosyldihydronicotinamide:quinone dehydrogenase 2 - 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'gene with protein product' - 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' - 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'has_chromosomal location' value "6p25.2" Class: http://www.orpha.net/ORDO/Orphanet_1229 Label(s): Pseudo-TORCH syndrome type 1 + 'Pseudo-TORCH syndrome type 1' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_2585 Label(s): Ataxia-pancytopenia syndrome + 'Ataxia-pancytopenia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_101109 Label(s): Spinocerebellar ataxia type 28 + 'Spinocerebellar ataxia type 28' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_33573 Label(s): Gamma-glutamyl transpeptidase deficiency + 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_448270 Label(s): Ectopia cordis - 'Ectopia cordis' SubClassOf 'part_of' some 'Rare congenital non-syndromic heart malformation' + 'Ectopia cordis' SubClassOf 'part_of' some 'Heart position anomaly' Class: http://www.orpha.net/ORDO/Orphanet_2524 Label(s): Pontocerebellar hypoplasia type 2 - 'Pontocerebellar hypoplasia type 2' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 2' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 2' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_714399 Label(s): Global developmental delay-dental enamel defects-ataxia syndrome - 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Global developmental delay-dental enamel defects-ataxia syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_79651 Label(s): Mild hyperphenylalaninemia - 'Mild hyperphenylalaninemia' SubClassOf 'Subtype of a disorder' + 'Mild hyperphenylalaninemia' SubClassOf 'Disease' + 'Mild hyperphenylalaninemia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_714385 Label(s): Global developmental delay-high pain tolerance-intellectual disability syndrome + 'Global developmental delay-high pain tolerance-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_331206 Label(s): Severe combined immunodeficiency due to complete RAG1/2 deficiency - 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720314 Class: http://www.orpha.net/ORDO/Orphanet_411527 Label(s): Central retinal vein occlusion - 'Central retinal vein occlusion' SubClassOf 'part_of' some 'Rare non-progressive retinal vasculopathy' - 'Central retinal vein occlusion' SubClassOf 'Disorder' - 'Central retinal vein occlusion' SubClassOf 'Particular clinical situation in a disease or syndrome' + 'Central retinal vein occlusion' SubClassOf 'Non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_493398 Label(s): complexin 1 - 'complexin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial infantile myoclonic epilepsy' + 'complexin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Myoclonic epilepsy of infancy' Class: http://www.orpha.net/ORDO/Orphanet_2744 Label(s): Horizontal gaze palsy with progressive scoliosis - 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730696 + 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729519 Class: http://www.orpha.net/ORDO/Orphanet_397758 Label(s): Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_505242 Label(s): Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome + 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_141209 Label(s): Diffuse lymphatic malformation - 'Diffuse lymphatic malformation' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' + 'Diffuse lymphatic malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_719950 Class: http://www.orpha.net/ORDO/Orphanet_397750 Label(s): Periodic paralysis with later-onset distal motor neuropathy + 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_941 Label(s): D-glyceric aciduria + 'D-glyceric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_294016 Label(s): Microcephaly-capillary malformation syndrome - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Rare capillary malformation' - 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some 'Rare capillary malformation with associated anomalies' + 'Microcephaly-capillary malformation syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723264 Class: http://www.orpha.net/ORDO/Orphanet_597201 Label(s): TRIM22-related inflammatory bowel disease - 'TRIM22-related inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_397715 Label(s): Joubert syndrome with Jeune asphyxiating thoracic dystrophy - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Malformation syndrome' - 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Disorder' + 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_120204 Label(s): tumor protein p53 + 'tumor protein p53' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726004 + 'tumor protein p53' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726036 Class: http://www.orpha.net/ORDO/Orphanet_476812 Label(s): cysteinyl leukotriene receptor 2 - 'cysteinyl leukotriene receptor 2' SubClassOf 'disease-causing somatic mutation(s) in' some 'Uveal melanoma' + 'cysteinyl leukotriene receptor 2' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723203 + 'cysteinyl leukotriene receptor 2' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723195 Class: http://www.orpha.net/ORDO/Orphanet_123058 Label(s): DNA ligase 4 - 'DNA ligase 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Omenn syndrome' - 'DNA ligase 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Dubowitz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_529980 Label(s): Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome - 'Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_496171 Label(s): ferric chelate reductase 1 like - 'ferric chelate reductase 1 like' SubClassOf 'candidate gene tested in' some 'Developmental and epileptic encephalopathy with spike-wave activation in sleep' Class: http://www.orpha.net/ORDO/Orphanet_529977 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_529974 Label(s): OBSOLETE:Immune dysregulation with inflammatory bowel disease - 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' SubClassOf 'Obsolete group of disorder' + 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' SubClassOf 'Rare immune disease with inflammatory bowel disease' + 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' SubClassOf 'Immune dysregulation disease with immunodeficiency' + 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_123042 Label(s): leucine rich glioma inactivated 1 + 'leucine rich glioma inactivated 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Early infantile developmental and epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_314051 Label(s): Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + 'Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_70595 Label(s): Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome + 'Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_284339 Label(s): Pontocerebellar hypoplasia type 7 - 'Pontocerebellar hypoplasia type 7' SubClassOf 'Malformation syndrome' - 'Pontocerebellar hypoplasia type 7' SubClassOf 'Disorder' + 'Pontocerebellar hypoplasia type 7' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_683720 Label(s): ROS proto-oncogene 1, receptor tyrosine kinase + 'ROS proto-oncogene 1, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma ROS1-altered' Class: http://www.orpha.net/ORDO/Orphanet_280142 Label(s): Combined immunodeficiency due to LCK deficiency - 'Combined immunodeficiency due to LCK deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Combined immunodeficiency due to LCK deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_363429 Label(s): Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome + 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_101089 Label(s): Hyper-IgM syndrome type 2 + 'Hyper-IgM syndrome type 2' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_101088 Label(s): X-linked hyper-IgM syndrome + 'X-linked hyper-IgM syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_471340 Label(s): exportin 1 + 'exportin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'exportin 1' SubClassOf 'role in the phenotype of' some '2p15p16.1 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_120020 Label(s): TEK receptor tyrosine kinase + 'TEK receptor tyrosine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Unifocal sporadic venous malformation' + 'TEK receptor tyrosine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Capillary-venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_715635 Label(s): Rothmund-Thomson syndrome type 4 + 'Rothmund-Thomson syndrome type 4' SubClassOf 'part_of' some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_519325 Label(s): OBSOLETE: Syndromic inherited retinal disorder + 'OBSOLETE: Syndromic inherited retinal disorder' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_419358 Label(s): ACD shelterin complex subunit and telomerase recruitment factor - 'ACD shelterin complex subunit and telomerase recruitment factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Hereditary isolated aplastic anemia' + 'ACD shelterin complex subunit and telomerase recruitment factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Dyskeratosis congenita' Class: http://www.orpha.net/ORDO/Orphanet_118443 Label(s): ryanodine receptor 2 - 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant' - 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant' - 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant' + 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_726788 + 'ryanodine receptor 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730618 Class: http://www.orpha.net/ORDO/Orphanet_397692 Label(s): Hereditary isolated aplastic anemia - 'Hereditary isolated aplastic anemia' SubClassOf 'Disease' - 'Hereditary isolated aplastic anemia' SubClassOf 'part_of' some 'Rare constitutional aplastic anemia' - 'Hereditary isolated aplastic anemia' SubClassOf 'Disorder' + 'Hereditary isolated aplastic anemia' SubClassOf 'referred to' some 'Congenital amegakaryocytic thrombocytopenia' + 'Hereditary isolated aplastic anemia' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_99013 Label(s): Spastic paraplegia type 7 + 'Spastic paraplegia type 7' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_120160 Label(s): TNF receptor superfamily member 11a - 'TNF receptor superfamily member 11a' SubClassOf 'major susceptibility factor in' some 'Adult-onset myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_596992 Label(s): SET domain containing 1B, histone lysine methyltransferase + 'SET domain containing 1B, histone lysine methyltransferase' SubClassOf 'role in the phenotype of' some '12q24.31 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_464453 Label(s): Acquired methemoglobinemia + 'Acquired methemoglobinemia' SubClassOf 'part_of' some 'Rare intoxication due to medical products' Class: http://www.orpha.net/ORDO/Orphanet_281472 Label(s): AKT serine/threonine kinase 1 - 'AKT serine/threonine kinase 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98897 Label(s): Oculopharyngodistal myopathy - 'Oculopharyngodistal myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_447926 Label(s): collagen type XIII alpha 1 chain - 'collagen type XIII alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Presynaptic congenital myasthenic syndromes' - 'collagen type XIII alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Postsynaptic congenital myasthenic syndrome' + 'collagen type XIII alpha 1 chain' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Synaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118554 Label(s): succinate dehydrogenase complex iron sulfur subunit B - 'succinate dehydrogenase complex iron sulfur subunit B' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_502423 Label(s): Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome + 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_564178 Label(s): Primary hypomagnesemia-refractory seizures-intellectual disability syndrome + 'Primary hypomagnesemia-refractory seizures-intellectual disability syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_585948 Label(s): B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - 'B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_716109 Label(s): Global developmental delay-facial dysmorphism-brachydactyly syndrome + 'Global developmental delay-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-facial dysmorphism-brachydactyly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_927 Label(s): Hyperammonemia due to N-acetylglutamate synthase deficiency + 'Hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_137898 Label(s): Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + 'Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_911 Label(s): Combined immunodeficiency due to ZAP70 deficiency - 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD8 and normal CD4' + 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_600635 Label(s): H4 clustered histone 9 - 'H4 clustered histone 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'H4 clustered histone 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_522584 Label(s): OBSOLETE: Rare genetic choroidal disorder + 'OBSOLETE: Rare genetic choroidal disorder' SubClassOf 'referred to' some 'Rare genetic disorder of the posterior segment of the eye' Class: http://www.orpha.net/ORDO/Orphanet_2394 Label(s): Pyruvate dehydrogenase E3 deficiency + 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_52427 Label(s): Retinitis punctata albescens - 'Retinitis punctata albescens' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_137820 Label(s): Extrapelvic endometriosis - 'Extrapelvic endometriosis' SubClassOf 'Disorder' - 'Extrapelvic endometriosis' SubClassOf 'part_of' some 'Rare non-malformative gynecologic or obstetric disease' - 'Extrapelvic endometriosis' SubClassOf 'Disease' + 'Extrapelvic endometriosis' SubClassOf 'Non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_715750 Label(s): Intracranial fast-flow vascular malformation + 'Intracranial fast-flow vascular malformation' SubClassOf 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_715757 Label(s): Metameric fast-flow vascular malformation - 'Metameric fast-flow vascular malformation' SubClassOf 'Unifocal fast-flow vascular malformation' + 'Metameric fast-flow vascular malformation' SubClassOf 'Neurovascular malformation' + 'Metameric fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_101063 Label(s): Situs inversus totalis - 'Situs inversus totalis' SubClassOf 'part_of' some 'Visceral heterotaxy' + 'Situs inversus totalis' SubClassOf 'part_of' some 'Heart position anomaly' Class: http://www.orpha.net/ORDO/Orphanet_120091 Label(s): thrombopoietin - 'thrombopoietin' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hereditary isolated aplastic anemia' - 'thrombopoietin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital amegakaryocytic thrombocytopenia' + 'thrombopoietin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726050 Class: http://www.orpha.net/ORDO/Orphanet_397596 Label(s): Activated PI3K-delta syndrome + 'Activated PI3K-delta syndrome' SubClassOf 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_423296 Label(s): Spinocerebellar ataxia type 38 + 'Spinocerebellar ataxia type 38' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_235181 Label(s): potassium inwardly rectifying channel subfamily J member 5 - 'potassium inwardly rectifying channel subfamily J member 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_641372 Label(s): B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) - 'B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_641375 Label(s): B-lymphoblastic leukemia/lymphoma with t(17;19) - 'B-lymphoblastic leukemia/lymphoma with t(17;19)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(17;19)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_714692 Label(s): Congenital disseminated pyogenic granuloma + 'Congenital disseminated pyogenic granuloma' SubClassOf 'part_of' some 'Benign vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_448010 Label(s): CAD-CDG + 'CAD-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'CAD-CDG' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_123219 Label(s): matrix Gla protein + 'matrix Gla protein' SubClassOf 'disease-causing germline mutation(s) in' some 'MGP-related spondyloepiphyseal dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_120036 Label(s): transcription factor binding to IGHM enhancer 3 + 'transcription factor binding to IGHM enhancer 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714138 Label(s): Circumscribed choroidal hemangioma - 'Circumscribed choroidal hemangioma' SubClassOf 'part_of' some 'Developmental defect of the eye' Class: http://www.orpha.net/ORDO/Orphanet_122800 Label(s): potassium voltage-gated channel subfamily Q member 1 - 'potassium voltage-gated channel subfamily Q member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel subfamily Q member 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_727141 Class: http://www.orpha.net/ORDO/Orphanet_329314 Label(s): Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_464321 Label(s): Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - 'Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' + 'Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome' SubClassOf 'part_of' some 'Borderline vascular tumor' Class: http://www.orpha.net/ORDO/Orphanet_281347 Label(s): ubiquilin 2 + 'ubiquilin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_714109 Label(s): Ocular siderosis - 'Ocular siderosis' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Ocular siderosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 Class: http://www.orpha.net/ORDO/Orphanet_228346 Label(s): CLN3 disease - 'CLN3 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_426049 Label(s): synaptosome associated protein 25 - 'synaptosome associated protein 25' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'synaptosome associated protein 25' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_159740 Label(s): potassium inwardly rectifying channel subfamily J member 13 + 'potassium inwardly rectifying channel subfamily J member 13' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_888 Label(s): Van der Woude syndrome + 'Van der Woude syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_363263 Label(s): neurotrophic receptor tyrosine kinase 2 + 'neurotrophic receptor tyrosine kinase 2' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma NTRK-altered' Class: http://www.orpha.net/ORDO/Orphanet_279934 Label(s): Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_708014 Label(s): Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment + 'Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment' SubClassOf 'part_of' some 'Rare syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_708019 Label(s): Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_108991 Label(s): Syndrome with a central nervous system malformation as a major feature - 'Syndrome with a central nervous system malformation as a major feature' SubClassOf 'Group of disorders' - 'Syndrome with a central nervous system malformation as a major feature' SubClassOf 'Central nervous system malformation' + 'Syndrome with a central nervous system malformation as a major feature' SubClassOf 'Obsolete group of disorder' + 'Syndrome with a central nervous system malformation as a major feature' SubClassOf 'referred to' some 'Central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_827 Label(s): Stargardt disease - 'Stargardt disease' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_94125 Label(s): Recessive mitochondrial ataxia syndrome + 'Recessive mitochondrial ataxia syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_163717 Label(s): Familial mesial temporal lobe epilepsy - 'Familial mesial temporal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Familial mesial temporal lobe epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119066 Label(s): B-Raf proto-oncogene, serine/threonine kinase - 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Langerhans cell histiocytosis' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Single-system multifocal Langerhans cell histiocytosis' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Pulmonary Langerhans cell histiocytosis' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Unifocal Langerhans cell histiocytosis' + 'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing somatic mutation(s) in' some 'Multisystem Langerhans cell histiocytosis' Class: http://www.orpha.net/ORDO/Orphanet_119068 Label(s): BRCA1 DNA repair associated - 'BRCA1 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' - 'BRCA1 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_521411 Label(s): Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + 'Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_85453 Label(s): X-linked reticulate pigmentary disorder + 'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some 'Rare skin disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_221061 Label(s): Familial cerebral cavernous malformation - 'Familial cerebral cavernous malformation' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' - 'Familial cerebral cavernous malformation' SubClassOf 'part_of' some 'Neurovascular malformation' + 'Familial cerebral cavernous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723432 Class: http://www.orpha.net/ORDO/Orphanet_521406 Label(s): Dystonia-parkinsonism-hypermanganesemia syndrome + 'Dystonia-parkinsonism-hypermanganesemia syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2254 Label(s): Pontocerebellar hypoplasia type 1 - 'Pontocerebellar hypoplasia type 1' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 1' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 1' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_85414 Label(s): Systemic-onset juvenile idiopathic arthritis + 'Systemic-onset juvenile idiopathic arthritis' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_2908 Label(s): Kindler epidermolysis bullosa + 'Kindler epidermolysis bullosa' SubClassOf 'part_of' some 'Rare skin disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_406692 Label(s): unc-13 homolog A + 'unc-13 homolog A' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_370022 Label(s): Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730406 + 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729566 Class: http://www.orpha.net/ORDO/Orphanet_159918 Label(s): activin A receptor type 2B - 'activin A receptor type 2B' SubClassOf 'major susceptibility factor in' some 'Situs ambiguus' - 'activin A receptor type 2B' SubClassOf 'has_chromosomal location' value "3p22.2" - 'activin A receptor type 2B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_289543 Label(s): BRCA1 associated deubiquitinase 1 - 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing somatic mutation(s) in' some 'Uveal melanoma' - 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Uveal melanoma' + 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723203 + 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723203 + 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723195 + 'BRCA1 associated deubiquitinase 1' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723195 Class: http://www.orpha.net/ORDO/Orphanet_238536 Label(s): Congenital secondary polycythemia - 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' + 'Congenital secondary polycythemia' SubClassOf 'Polycythemia' + 'Congenital secondary polycythemia' SubClassOf 'Genetic polycythemia' Class: http://www.orpha.net/ORDO/Orphanet_3389 Label(s): Tuberculosis - 'Tuberculosis' SubClassOf 'Group of disorders' - 'Tuberculosis' SubClassOf 'Rare bacterial infectious disease' + 'Tuberculosis' SubClassOf 'Disease' + 'Tuberculosis' SubClassOf 'Disorder' + 'Tuberculosis' SubClassOf 'part_of' some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_406645 Label(s): Meis homeobox 2 + 'Meis homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation' Class: http://www.orpha.net/ORDO/Orphanet_714046 Label(s): Primary choroidal lymphoma + 'Primary choroidal lymphoma' SubClassOf 'part_of' some 'Primary organ-specific lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_447737 Label(s): Combined immunodeficiency due to DOCK2 deficiency + 'Combined immunodeficiency due to DOCK2 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_352582 Label(s): Familial infantile myoclonic epilepsy - 'Familial infantile myoclonic epilepsy' SubClassOf 'Disorder' - 'Familial infantile myoclonic epilepsy' SubClassOf 'Disease' - 'Familial infantile myoclonic epilepsy' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Familial infantile myoclonic epilepsy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Familial infantile myoclonic epilepsy' SubClassOf 'moved to' some 'Myoclonic epilepsy of infancy' + 'Familial infantile myoclonic epilepsy' SubClassOf 'Deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_596759 Label(s): Combined immunodeficiency due to RELA haploinsufficiency + 'Combined immunodeficiency due to RELA haploinsufficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_118561 Label(s): succinate dehydrogenase complex subunit D - 'succinate dehydrogenase complex subunit D' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254851 Label(s): Mitochondrial DNA-related dystonia + 'Mitochondrial DNA-related dystonia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_209978 Label(s): Alternating hemiplegia + 'Alternating hemiplegia' SubClassOf 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_791 Label(s): Retinitis pigmentosa - 'Retinitis pigmentosa' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_163693 Label(s): 2p21 microdeletion syndrome + '2p21 microdeletion syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_774 Label(s): Hereditary hemorrhagic telangiectasia - 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some 'Fast-flow vascular malformation' + 'Hereditary hemorrhagic telangiectasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_719955 Class: http://www.orpha.net/ORDO/Orphanet_254343 Label(s): Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome + 'Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_163684 Label(s): Leukoencephalopathy-dystonia-motor neuropathy syndrome + 'Leukoencephalopathy-dystonia-motor neuropathy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_765 Label(s): Pyruvate dehydrogenase deficiency + 'Pyruvate dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_118507 Label(s): sodium voltage-gated channel alpha subunit 4 - 'sodium voltage-gated channel alpha subunit 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'sodium voltage-gated channel alpha subunit 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to a sodium channel 1.4 defect' Class: http://www.orpha.net/ORDO/Orphanet_118500 Label(s): sodium voltage-gated channel alpha subunit 2 + 'sodium voltage-gated channel alpha subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_255229 Label(s): Navajo neurohepatopathy + 'Navajo neurohepatopathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_471070 Label(s): solute carrier family 18 member A3 - 'solute carrier family 18 member A3' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'solute carrier family 18 member A3' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' Class: http://www.orpha.net/ORDO/Orphanet_562473 Label(s): nidogen 1 - 'nidogen 1' SubClassOf 'gene with protein product' - 'nidogen 1' SubClassOf 'has_chromosomal location' value "1q42.3" - 'nidogen 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated Dandy-Walker malformation without hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_722 Label(s): Hypoplasminogenemia + 'Hypoplasminogenemia' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' Class: http://www.orpha.net/ORDO/Orphanet_653880 Label(s): Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + 'Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_163634 Label(s): Maffucci syndrome - 'Maffucci syndrome' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'Maffucci syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723261 Class: http://www.orpha.net/ORDO/Orphanet_718 Label(s): Isolated Pierre Robin sequence + 'Isolated Pierre Robin sequence' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_716 Label(s): Phenylketonuria - 'Phenylketonuria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_137681 Label(s): Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + 'Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_299152 Label(s): isocitrate dehydrogenase (NADP(+)) 1 + 'isocitrate dehydrogenase (NADP(+)) 1' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726004 Class: http://www.orpha.net/ORDO/Orphanet_137667 Label(s): Capillary malformation-arteriovenous malformation - 'Capillary malformation-arteriovenous malformation' SubClassOf 'Fast-flow vascular malformation' + 'Capillary malformation-arteriovenous malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_719955 Class: http://www.orpha.net/ORDO/Orphanet_600439 Label(s): protein phosphatase 2 catalytic subunit alpha - 'protein phosphatase 2 catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'protein phosphatase 2 catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726659 Class: http://www.orpha.net/ORDO/Orphanet_123196 Label(s): menin 1 - 'menin 1' SubClassOf 'has_chromosomal location' value "11q13" + 'menin 1' SubClassOf 'has_chromosomal location' value "11q13.1" Class: http://www.orpha.net/ORDO/Orphanet_694956 Label(s): Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome + 'Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_2185 Label(s): Congenital hydrocephalus - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Non-syndromic central nervous system malformation' + 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Genetic central nervous system malformation' + 'Congenital hydrocephalus' SubClassOf 'part_of' some 'Central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_229717 Label(s): Non-syndromic agammaglobulinemia + 'Non-syndromic agammaglobulinemia' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_641396 Label(s): Central nervous system tuberculosis - 'Central nervous system tuberculosis' SubClassOf 'Disease' - 'Central nervous system tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' - 'Central nervous system tuberculosis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' - 'Central nervous system tuberculosis' SubClassOf 'Disorder' + 'Central nervous system tuberculosis' SubClassOf 'Obsolete disorder' + 'Central nervous system tuberculosis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_565788 Label(s): Infantile inflammatory bowel disease with neurological involvement - 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Infantile inflammatory bowel disease with neurological involvement' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_445018 Label(s): Syndromic autoimmune enteropathy due to LRBA deficiency + 'Syndromic autoimmune enteropathy due to LRBA deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_487796 Label(s): Takenouchi-Kosaki syndrome + 'Takenouchi-Kosaki syndrome' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_286604 Label(s): complement factor H related 5 + 'complement factor H related 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Dense deposit disease' Class: http://www.orpha.net/ORDO/Orphanet_2109 Label(s): Hallermann-Streiff-like syndrome - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Malformation syndrome with short stature' - 'Hallermann-Streiff-like syndrome' SubClassOf 'Disorder' - 'Hallermann-Streiff-like syndrome' SubClassOf 'Malformation syndrome' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Premature aging' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Slender bone dysplasia' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Craniofacial anomaly with cataract' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Genetic malformation syndrome with short stature' - 'Hallermann-Streiff-like syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Hallermann-Streiff-like syndrome' SubClassOf 'moved to' some 'Hallermann-Streiff syndrome' + 'Hallermann-Streiff-like syndrome' SubClassOf 'Deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_2101 Label(s): Grubben-de Cock-Borghgraef syndrome - 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'part_of' some 'Rare disorder with pigmented sclera' Class: http://www.orpha.net/ORDO/Orphanet_59315 Label(s): Rhombencephalosynapsis - 'Rhombencephalosynapsis' SubClassOf 'part_of' some 'Cerebellar malformation' + 'Rhombencephalosynapsis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729527 Class: http://www.orpha.net/ORDO/Orphanet_1945 Label(s): Self-limited epilepsy with centrotemporal spikes - 'Self-limited epilepsy with centrotemporal spikes' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Self-limited epilepsy with centrotemporal spikes' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726812 Class: http://www.orpha.net/ORDO/Orphanet_676125 Label(s): X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'Rare hereditary autoinflammatory disease' + 'X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_109 Label(s): Bannayan-Riley-Ruvalcaba syndrome - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Complex vascular malformation with associated anomalies' - 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'part_of' some 'Genetic complex vascular malformation with associated anomalies' Class: http://www.orpha.net/ORDO/Orphanet_211266 Label(s): Fast-flow vascular malformation - 'Fast-flow vascular malformation' SubClassOf 'Rare vascular anomaly' + 'Fast-flow vascular malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_1929 Label(s): Rasmussen subacute encephalitis + 'Rasmussen subacute encephalitis' SubClassOf 'part_of' some 'Variable age-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_211255 Label(s): Slow-flow malformation, lymphatic type - 'Slow-flow malformation, lymphatic type' SubClassOf 'Rare vascular anomaly' + 'Slow-flow malformation, lymphatic type' SubClassOf http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_211252 Label(s): Slow-flow malformation, venous type - 'Slow-flow malformation, venous type' SubClassOf 'Rare vascular anomaly' + 'Slow-flow malformation, venous type' SubClassOf http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_254925 Label(s): Combined oxidative phosphorylation defect type 4 + 'Combined oxidative phosphorylation defect type 4' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_688543 Label(s): Reticular dysgenesis-like severe combined immunodeficiency - 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Reticular dysgenesis-like severe combined immunodeficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720294 Class: http://www.orpha.net/ORDO/Orphanet_352641 Label(s): Autosomal recessive cerebellar ataxia with late-onset spasticity + 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_211243 Label(s): Simple vascular malformation - 'Simple vascular malformation' SubClassOf 'Rare vascular anomaly' - 'Simple vascular malformation' SubClassOf 'Group of disorders' + 'Simple vascular malformation' SubClassOf 'Obsolete group of disorder' + 'Simple vascular malformation' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_352649 Label(s): Brain dopamine-serotonin vesicular transport disease + 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_145 Label(s): Hereditary breast and/or ovarian cancer syndrome + 'Hereditary breast and/or ovarian cancer syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_695183 Label(s): Late-onset combined immunodeficiency due to ICOS deficiency + 'Late-onset combined immunodeficiency due to ICOS deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_699697 Label(s): Necrotizing fasciitis + 'Necrotizing fasciitis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_159562 Label(s): NK2 homeobox 6 - 'NK2 homeobox 6' SubClassOf 'major susceptibility factor in' some 'Common arterial trunk' + 'NK2 homeobox 6' SubClassOf 'major susceptibility factor in' some 'Common arterial trunk with pulmonary dominance and interrupted aortic arch' Class: http://www.orpha.net/ORDO/Orphanet_572013 Label(s): Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome + 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730696 + 'Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729519 Class: http://www.orpha.net/ORDO/Orphanet_667 Label(s): Autosomal recessive malignant osteopetrosis + 'Autosomal recessive malignant osteopetrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_665 Label(s): Albright hereditary osteodystrophy - 'Albright hereditary osteodystrophy' SubClassOf 'moved to' some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' + 'Albright hereditary osteodystrophy' SubClassOf 'moved to' some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_664 Label(s): Ornithine transcarbamylase deficiency + 'Ornithine transcarbamylase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_658 Label(s): Non-histaminic angioedema - 'Non-histaminic angioedema' SubClassOf 'Rare systemic or rheumatologic disease' - 'Non-histaminic angioedema' SubClassOf 'Rare allergic disease' + 'Non-histaminic angioedema' SubClassOf 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_646 Label(s): Niemann-Pick disease type C + 'Niemann-Pick disease type C' SubClassOf 'part_of' some 'Rare inborn error of metabolism with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_638 Label(s): Neurofibromatosis-Noonan syndrome + 'Neurofibromatosis-Noonan syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_624 Label(s): Familial multiple nevi flammei - 'Familial multiple nevi flammei' SubClassOf 'part_of' some 'Rare capillary malformation' + 'Familial multiple nevi flammei' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723264 Class: http://www.orpha.net/ORDO/Orphanet_209932 Label(s): Cone dystrophy with supernormal rod response - 'Cone dystrophy with supernormal rod response' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_618 Label(s): Familial melanoma + 'Familial melanoma' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_615 Label(s): Familial atrial myxoma + 'Familial atrial myxoma' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_457279 Label(s): Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'Disorder' - 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'Malformation syndrome' + 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726644 + 'Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_254920 Label(s): Combined oxidative phosphorylation defect type 2 + 'Combined oxidative phosphorylation defect type 2' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1532 Label(s): Gómez-López-Hernández syndrome - 'Gómez-López-Hernández syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Gómez-López-Hernández syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729538 Class: http://www.orpha.net/ORDO/Orphanet_254913 Label(s): Isolated ATP synthase deficiency + 'Isolated ATP synthase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_300208 Label(s): calcium voltage-gated channel auxiliary subunit alpha2delta 1 - 'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital short QT syndrome' + 'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'candidate gene tested in' some 'Congenital short QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_254905 Label(s): Isolated cytochrome C oxidase deficiency + 'Isolated cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_254902 Label(s): Renal tubulopathy-encephalopathy-liver failure syndrome + 'Renal tubulopathy-encephalopathy-liver failure syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_97548 Label(s): Right isomerism - 'Right isomerism' SubClassOf 'Malformation syndrome' - 'Right isomerism' SubClassOf 'Disorder' + 'Right isomerism' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_2077 Label(s): German syndrome + 'German syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723416 Class: http://www.orpha.net/ORDO/Orphanet_324569 Label(s): Pontocerebellar hypoplasia type 8 - 'Pontocerebellar hypoplasia type 8' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 8' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 8' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_649843 Label(s): LDL receptor related protein 12 + 'LDL receptor related protein 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_166308 Label(s): Benign infantile focal epilepsy with midline spikes and waves during sleep - 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'part_of' some 'Neonatal-infantile onset epilepsy syndrome' - 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'Disease' - 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'Disorder' + 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'moved to' some 'Self-limited infantile epilepsy' + 'Benign infantile focal epilepsy with midline spikes and waves during sleep' SubClassOf 'Deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_169160 Label(s): T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_324530 Label(s): Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation + 'Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1896 Label(s): EEC syndrome + 'EEC syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_169154 Label(s): T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_1872 Label(s): Cone rod dystrophy - 'Cone rod dystrophy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1871 Label(s): Progressive cone dystrophy - 'Progressive cone dystrophy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_356176 Label(s): laminin subunit beta 1 + 'laminin subunit beta 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Episodic memory defect leukoencephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_353308 Label(s): Pyruvate carboxylase deficiency, infantile type + 'Pyruvate carboxylase deficiency, infantile type' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_168984 Label(s): CLAPO syndrome + 'CLAPO syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 Class: http://www.orpha.net/ORDO/Orphanet_169105 Label(s): Thymoma-hypogammaglobulinemia syndrome - 'Thymoma-hypogammaglobulinemia syndrome' SubClassOf 'part_of' some 'Acquired immunodeficiency' + 'Thymoma-hypogammaglobulinemia syndrome' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_169079 Label(s): Cernunnos-XLF deficiency - 'Cernunnos-XLF deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Cernunnos-XLF deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720308 Class: http://www.orpha.net/ORDO/Orphanet_714477 Label(s): Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome + 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' SubClassOf 'part_of' some 'Immune deficiency with skin involvement' + 'Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_46724 Label(s): Brain arteriovenous malformation - 'Brain arteriovenous malformation' SubClassOf 'part_of' some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_317387 Label(s): calmodulin 1 - 'calmodulin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calmodulin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'calmodulin 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727192 + 'calmodulin 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730657 Class: http://www.orpha.net/ORDO/Orphanet_238569 Label(s): Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' - 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_293303 Label(s): cyclin dependent kinase inhibitor 2B + 'cyclin dependent kinase inhibitor 2B' SubClassOf 'biomarker tested in' some 'High-grade astrocytoma with piloid features' Class: http://www.orpha.net/ORDO/Orphanet_578 Label(s): Mucolipidosis type IV + 'Mucolipidosis type IV' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_572 Label(s): Immunodeficiency by defective expression of MHC class II - 'Immunodeficiency by defective expression of MHC class II' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Immunodeficiency by defective expression of MHC class II' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_122376 Label(s): hemoglobin subunit beta - 'hemoglobin subunit beta' SubClassOf 'disease-causing germline mutation(s) in' some 'Hemoglobin E-beta-thalassemia syndrome' + 'hemoglobin subunit beta' SubClassOf 'disease-causing somatic mutation(s) in' some 'Hemoglobin E-beta-thalassemia major' Class: http://www.orpha.net/ORDO/Orphanet_254881 Label(s): Spinocerebellar ataxia with epilepsy + 'Spinocerebellar ataxia with epilepsy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_540 Label(s): Familial hemophagocytic lymphohistiocytosis + 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_534 Label(s): Oculocerebrorenal syndrome of Lowe + 'Oculocerebrorenal syndrome of Lowe' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_458792 Label(s): Mixed cystic lymphatic malformation - 'Mixed cystic lymphatic malformation' SubClassOf 'Disorder' - 'Mixed cystic lymphatic malformation' SubClassOf 'Malformation syndrome' + 'Mixed cystic lymphatic malformation' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_511 Label(s): Maple syrup urine disease + 'Maple syrup urine disease' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_85186 Label(s): Endosteal sclerosis-cerebellar hypoplasia syndrome - 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' - 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'Disorder' - 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'Malformation syndrome' + 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'Deprecated disorder' + 'Endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'moved to' some 'Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123393 Label(s): APC regulator of Wnt signaling pathway + 'APC regulator of Wnt signaling pathway' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial adenomatous polyposis' Class: http://www.orpha.net/ORDO/Orphanet_233066 Label(s): microseminoprotein beta - 'microseminoprotein beta' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'microseminoprotein beta' SubClassOf 'gene with protein product' - 'microseminoprotein beta' SubClassOf 'has_chromosomal location' value "10q11.22" Class: http://www.orpha.net/ORDO/Orphanet_233062 Label(s): agrin - 'agrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' - 'agrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'agrin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' Class: http://www.orpha.net/ORDO/Orphanet_119387 Label(s): choline O-acetyltransferase - 'choline O-acetyltransferase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Presynaptic congenital myasthenic syndromes' + 'choline O-acetyltransferase' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' Class: http://www.orpha.net/ORDO/Orphanet_169095 Label(s): Severe combined immunodeficiency due to FOXN1 deficiency - 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to FOXN1 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_85128 Label(s): Bothnia retinal dystrophy - 'Bothnia retinal dystrophy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_169085 Label(s): Susceptibility to respiratory infections associated with CD8alpha chain mutation - 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD8 and normal CD4' Class: http://www.orpha.net/ORDO/Orphanet_169082 Label(s): Combined immunodeficiency due to CD3gamma deficiency - 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal B cells and normal immunoglubulins' + 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_319504 Label(s): Combined oxidative phosphorylation defect type 8 + 'Combined oxidative phosphorylation defect type 8' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_319524 Label(s): Combined oxidative phosphorylation defect type 15 + 'Combined oxidative phosphorylation defect type 15' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_353217 Label(s): Epileptic encephalopathy with global cerebral demyelination + 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_290420 Label(s): MYC associated transcriptional regulator X + 'MYC associated transcriptional regulator X' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726703 Class: http://www.orpha.net/ORDO/Orphanet_123860 Label(s): notch receptor 3 + 'notch receptor 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_729649 Class: http://www.orpha.net/ORDO/Orphanet_446538 Label(s): eukaryotic translation elongation factor 1 alpha 2 - 'eukaryotic translation elongation factor 1 alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' + 'eukaryotic translation elongation factor 1 alpha 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_576278 Label(s): SATB2-associated syndrome + 'SATB2-associated syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_317473 Label(s): Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency + 'Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_714160 Label(s): Presumed ocular histoplasmosis syndrome + 'Presumed ocular histoplasmosis syndrome' SubClassOf 'part_of' some 'Rare mycosis' + 'Presumed ocular histoplasmosis syndrome' SubClassOf 'part_of' some 'Rare inflammatory choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_118222 Label(s): receptor associated protein of the synapse - 'receptor associated protein of the synapse' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'receptor associated protein of the synapse' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_719880 Class: http://www.orpha.net/ORDO/Orphanet_475 Label(s): Isolated Joubert syndrome - 'Isolated Joubert syndrome' SubClassOf 'part_of' some 'Malformation of the cerebellar vermis' - 'Isolated Joubert syndrome' SubClassOf 'Disorder' - 'Isolated Joubert syndrome' SubClassOf 'Malformation syndrome' - 'Isolated Joubert syndrome' SubClassOf 'part_of' some 'Genetic cerebellar malformation' + 'Isolated Joubert syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_251949 Label(s): Ganglioglioma + 'Ganglioglioma' SubClassOf 'part_of' some 'Rare epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_251946 Label(s): Dysembryoplastic neuroepithelial tumor + 'Dysembryoplastic neuroepithelial tumor' SubClassOf 'part_of' some 'Rare epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_464 Label(s): Incontinentia pigmenti + 'Incontinentia pigmenti' SubClassOf 'part_of' some 'Rare skin disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_478126 Label(s): trans-2,3-enoyl-CoA reductase like - 'trans-2,3-enoyl-CoA reductase like' SubClassOf 'disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'trans-2,3-enoyl-CoA reductase like' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730644 Class: http://www.orpha.net/ORDO/Orphanet_450 Label(s): Visceral heterotaxy - 'Visceral heterotaxy' SubClassOf 'Group of disorders' - 'Visceral heterotaxy' SubClassOf 'Heart position anomaly' + 'Visceral heterotaxy' SubClassOf 'part_of' some 'Heart position anomaly' + 'Visceral heterotaxy' SubClassOf 'Morphological anomaly' + 'Visceral heterotaxy' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_424 Label(s): Familial hyperthyroidism due to mutations in TSH receptor - 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'part_of' some 'Rare genetic cause of hypertension' Class: http://www.orpha.net/ORDO/Orphanet_169100 Label(s): Immunodeficiency due to CD25 deficiency + 'Immunodeficiency due to CD25 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_120613 Label(s): Zic family zinc finger 3 - 'Zic family zinc finger 3' SubClassOf 'major susceptibility factor in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_122207 Label(s): glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase + 'glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_457059 Label(s): Pseudohypoparathyroidism with Albright hereditary osteodystrophy - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Other dermis disorder' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Group of disorders' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' - 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Other genetic dermis disorder' + 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'referred to' some 'Pseudohypoparathyroidism' + 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_220497 Label(s): Joubert syndrome with renal defect - 'Joubert syndrome with renal defect' SubClassOf 'Disorder' - 'Joubert syndrome with renal defect' SubClassOf 'Malformation syndrome' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with renal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with renal defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_220493 Label(s): Joubert syndrome with ocular defect - 'Joubert syndrome with ocular defect' SubClassOf 'Disorder' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with ocular defect' SubClassOf 'Malformation syndrome' + 'Joubert syndrome with ocular defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_324353 Label(s): Congenital achiasma - 'Congenital achiasma' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' + 'Congenital achiasma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_470516 Label(s): interferon regulatory factor 4 + 'interferon regulatory factor 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726479 + 'interferon regulatory factor 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726442 + 'interferon regulatory factor 4' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726452 Class: http://www.orpha.net/ORDO/Orphanet_520817 Label(s): OBSOLETE: Isolated inherited retinal disorder + 'OBSOLETE: Isolated inherited retinal disorder' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_1167 Label(s): OBSOLETE: Facial asymmetry-temporal seizures syndrome - 'OBSOLETE: Facial asymmetry-temporal seizures syndrome' SubClassOf 'referred to' some 'Familial partial epilepsy' + 'OBSOLETE: Facial asymmetry-temporal seizures syndrome' SubClassOf 'referred to' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_169157 Label(s): T-B+ severe combined immunodeficiency due to CD45 deficiency - 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_2356 Label(s): Arachnoid cyst - 'Arachnoid cyst' SubClassOf 'part_of' some 'Pituitary hormone deficiency of meningeal origin' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' - 'Arachnoid cyst' SubClassOf 'part_of' some 'Central nervous system cystic malformation' - 'Arachnoid cyst' SubClassOf 'Disorder' - 'Arachnoid cyst' SubClassOf 'Morphological anomaly' + 'Arachnoid cyst' SubClassOf 'Non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_220443 Label(s): Bleeding diathesis due to thromboxane synthesis deficiency - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'part_of' some 'Isolated constitutional thrombocytopenia' - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Disease' - 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Disorder' + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_728656 + 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_99995 Label(s): Complex regional pain syndrome type 1 - 'Complex regional pain syndrome type 1' SubClassOf 'Subtype of a disorder' - 'Complex regional pain syndrome type 1' SubClassOf 'part_of' some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 1' SubClassOf 'referred to' some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 1' SubClassOf 'Obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_99994 Label(s): Complex regional pain syndrome type 2 - 'Complex regional pain syndrome type 2' SubClassOf 'Subtype of a disorder' - 'Complex regional pain syndrome type 2' SubClassOf 'part_of' some 'Complex regional pain syndrome' + 'Complex regional pain syndrome type 2' SubClassOf 'Obsolete subtype of disorder' + 'Complex regional pain syndrome type 2' SubClassOf 'referred to' some 'Complex regional pain syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1666 Label(s): Dextrocardia - 'Dextrocardia' SubClassOf 'part_of' some 'Visceral heterotaxy' + 'Dextrocardia' SubClassOf 'part_of' some 'Heart position anomaly' Class: http://www.orpha.net/ORDO/Orphanet_165929 Label(s): prolyl endopeptidase like + 'prolyl endopeptidase like' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' Class: http://www.orpha.net/ORDO/Orphanet_697414 Label(s): Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation + 'Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation' SubClassOf 'part_of' some 'Inherited hematologic cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99974 Label(s): OBSOLETE: TACI-related selective deficiency of IgA - 'OBSOLETE: TACI-related selective deficiency of IgA' SubClassOf 'referred to' some 'Immunodeficiency predominantly affecting antibody production' + 'OBSOLETE: TACI-related selective deficiency of IgA' SubClassOf 'referred to' some 'Common variable immunodeficiency phenotype due to homozygous TACI deficiency' Class: http://www.orpha.net/ORDO/Orphanet_697734 Label(s): ST3GAL3-CDG + 'ST3GAL3-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'ST3GAL3-CDG' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_314689 Label(s): Combined immunodeficiency due to STK4 deficiency + 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_414 Label(s): Gyrate atrophy of choroid and retina + 'Gyrate atrophy of choroid and retina' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_415 Label(s): Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + 'Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_331187 Label(s): Immunodeficiency due to MASP-2 deficiency + 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_331176 Label(s): Severe congenital neutropenia due to G6PC3 deficiency + 'Severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1600 Label(s): Monosomy 18q syndrome + 'Monosomy 18q syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_139906 Label(s): tyrosyl-tRNA synthetase 1 + 'tyrosyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727861 Class: http://www.orpha.net/ORDO/Orphanet_615954 Label(s): Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome - 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728528 Class: http://www.orpha.net/ORDO/Orphanet_99901 Label(s): Acyl-CoA dehydrogenase 9 deficiency + 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1132 Label(s): Aortic arch defects - 'Aortic arch defects' SubClassOf 'Respiratory malformation' - 'Aortic arch defects' SubClassOf 'Syndromic respiratory or mediastinal malformation' Class: http://www.orpha.net/ORDO/Orphanet_37042 Label(s): Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_395 Label(s): Homocystinuria due to methylene tetrahydrofolate reductase deficiency + 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_293114 Label(s): thromboxane A2 receptor - 'thromboxane A2 receptor' SubClassOf 'major susceptibility factor in' some 'Bleeding diathesis due to thromboxane synthesis deficiency' + 'thromboxane A2 receptor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_728656 Class: http://www.orpha.net/ORDO/Orphanet_1150 Label(s): Arthrogryposis multiplex congenita-whistling face syndrome + 'Arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_118128 Label(s): phosphatase and tensin homolog + 'phosphatase and tensin homolog' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726807 Class: http://www.orpha.net/ORDO/Orphanet_314603 Label(s): Autosomal recessive spastic ataxia with leukoencephalopathy + 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_379 Label(s): Chronic granulomatous disease + 'Chronic granulomatous disease' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_373 Label(s): Simpson-Golabi-Behmel syndrome + 'Simpson-Golabi-Behmel syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_437689 Label(s): solute carrier family 67 member 1 - 'solute carrier family 67 member 1' SubClassOf 'candidate gene tested in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_317430 Label(s): Combined immunodeficiency due to STIM1 deficiency + 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_349 Label(s): Fucosidosis + 'Fucosidosis' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_317425 Label(s): Severe combined immunodeficiency due to DNA-PKcs deficiency - 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720308 Class: http://www.orpha.net/ORDO/Orphanet_337 Label(s): Fibrodysplasia ossificans progressiva + 'Fibrodysplasia ossificans progressiva' SubClassOf 'part_of' some 'Rare systemic disease' + 'Fibrodysplasia ossificans progressiva' SubClassOf 'part_of' some 'Rare pediatric systemic disease' Class: http://www.orpha.net/ORDO/Orphanet_157769 Label(s): Situs ambiguus - 'Situs ambiguus' SubClassOf 'part_of' some 'Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen' - 'Situs ambiguus' SubClassOf 'part_of' some 'Genetic cardiac anomaly' - 'Situs ambiguus' SubClassOf 'Disorder' - 'Situs ambiguus' SubClassOf 'Morphological anomaly' - 'Situs ambiguus' SubClassOf 'part_of' some 'Visceral heterotaxy' + 'Situs ambiguus' SubClassOf 'referred to' some 'Visceral heterotaxy' + 'Situs ambiguus' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_124154 Label(s): platelet derived growth factor receptor alpha - 'platelet derived growth factor receptor alpha' SubClassOf 'part of a fusion gene in' some 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' Class: http://www.orpha.net/ORDO/Orphanet_330902 Label(s): T-cell receptor gamma locus - 'T-cell receptor gamma locus' SubClassOf 'gene with protein product' - 'T-cell receptor gamma locus' SubClassOf 'has_chromosomal location' value "7p14" - 'T-cell receptor gamma locus' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_309 Label(s): Familial partial epilepsy - 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' - 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' - 'Familial partial epilepsy' SubClassOf 'Group of disorders' - 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' - 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' + 'Familial partial epilepsy' SubClassOf 'referred to' some 'Childhood-onset epilepsy syndrome' + 'Familial partial epilepsy' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_303 Label(s): Dystrophic epidermolysis bullosa + 'Dystrophic epidermolysis bullosa' SubClassOf 'Rare skin disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_300 Label(s): Bifunctional enzyme deficiency + 'Bifunctional enzyme deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_294963 Label(s): Popliteal pterygium syndrome + 'Popliteal pterygium syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_723416 + 'Popliteal pterygium syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_391351 Label(s): SURF1-related Charcot-Marie-Tooth disease type 4 + 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_324294 Label(s): T-cell immunodeficiency with epidermodysplasia verruciformis - 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'part_of' some 'Combined immunodeficiency with normal B cells and normal immunoglubulins' Class: http://www.orpha.net/ORDO/Orphanet_60030 Label(s): Loeys-Dietz syndrome + 'Loeys-Dietz syndrome' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_97252 Label(s): Mega-cisterna magna - 'Mega-cisterna magna' SubClassOf 'part_of' some 'Posterior fossa malformation' + 'Mega-cisterna magna' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729563 Class: http://www.orpha.net/ORDO/Orphanet_97249 Label(s): Pontocerebellar hypoplasia type 3 - 'Pontocerebellar hypoplasia type 3' SubClassOf 'Malformation syndrome' - 'Pontocerebellar hypoplasia type 3' SubClassOf 'Disorder' + 'Pontocerebellar hypoplasia type 3' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_697389 Label(s): Combined immunodeficiency due to HELIOS deficiency + 'Combined immunodeficiency due to HELIOS deficiency' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_697385 Label(s): Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency + 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'part_of' some 'Inherited hematologic cancer-predisposing syndrome' + 'Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_269528 Label(s): Syndrome with microcephaly as a major feature - 'Syndrome with microcephaly as a major feature' SubClassOf 'Syndrome with a central nervous system malformation as a major feature' + 'Syndrome with microcephaly as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_140047 Label(s): bone morphogenetic protein 4 - 'bone morphogenetic protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Stickler syndrome' + 'bone morphogenetic protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Stickler syndrome type 2' Class: http://www.orpha.net/ORDO/Orphanet_227401 Label(s): unc-119 lipid binding chaperone - 'unc-119 lipid binding chaperone' SubClassOf 'disease-causing germline mutation(s) in' some 'Idiopathic CD4 lymphocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_444458 Label(s): Combined oxidative phosphorylation defect type 24 + 'Combined oxidative phosphorylation defect type 24' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_119122 Label(s): carbonic anhydrase 4 - 'carbonic anhydrase 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'carbonic anhydrase 4' SubClassOf 'candidate gene tested in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_403322 Label(s): ER lipid raft associated 1 + 'ER lipid raft associated 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_1568 Label(s): X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a Dandy-Walker malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_1561 Label(s): Fatal infantile cytochrome C oxidase deficiency + 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_25968 Label(s): Self-limited childhood occipital epilepsy - 'Self-limited childhood occipital epilepsy' SubClassOf 'Disease' - 'Self-limited childhood occipital epilepsy' SubClassOf 'Disorder' - 'Self-limited childhood occipital epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' + 'Self-limited childhood occipital epilepsy' SubClassOf 'Obsolete disorder' + 'Self-limited childhood occipital epilepsy' SubClassOf 'referred to' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_476093 Label(s): HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome + 'HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_485520 Label(s): adenylate kinase 9 - 'adenylate kinase 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'adenylate kinase 9' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_719880 + 'adenylate kinase 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder' Class: http://www.orpha.net/ORDO/Orphanet_1544 Label(s): Benign focal seizures of adolescence - 'Benign focal seizures of adolescence' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' + 'Benign focal seizures of adolescence' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_34592 Label(s): Immunodeficiency by defective expression of MHC class I - 'Immunodeficiency by defective expression of MHC class I' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Immunodeficiency by defective expression of MHC class I' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD8 and normal CD4' + 'Immunodeficiency by defective expression of MHC class I' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_119072 Label(s): BRCA2 DNA repair associated - 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' - 'BRCA2 DNA repair associated' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_326886 Label(s): killin, p53 regulated DNA replication inhibitor - 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'has_chromosomal location' value "10q23" - 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'gene with protein product' - 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_99842 Label(s): Leukocyte adhesion deficiency type I + 'Leukocyte adhesion deficiency type I' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_118070 Label(s): peripherin 2 + 'peripherin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'peripherin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' Class: http://www.orpha.net/ORDO/Orphanet_298 Label(s): Mitochondrial neurogastrointestinal encephalomyopathy + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'part_of' some 'Rare inborn error of metabolism with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_542657 Label(s): Isolated hyperchlorhidrosis - 'Isolated hyperchlorhidrosis' SubClassOf 'part_of' some 'Epidermal appendage anomaly' + 'Isolated hyperchlorhidrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726843 Class: http://www.orpha.net/ORDO/Orphanet_277 Label(s): Severe combined immunodeficiency due to adenosine deaminase deficiency - 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720294 Class: http://www.orpha.net/ORDO/Orphanet_276 Label(s): T-B+ severe combined immunodeficiency due to gamma chain deficiency - 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720287 Class: http://www.orpha.net/ORDO/Orphanet_275 Label(s): Severe combined immunodeficiency due to DCLRE1C deficiency - 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720314 Class: http://www.orpha.net/ORDO/Orphanet_123600 Label(s): MYCN proto-oncogene, bHLH transcription factor + 'MYCN proto-oncogene, bHLH transcription factor' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_730286 Class: http://www.orpha.net/ORDO/Orphanet_160311 Label(s): muscle associated receptor tyrosine kinase - 'muscle associated receptor tyrosine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'muscle associated receptor tyrosine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' Class: http://www.orpha.net/ORDO/Orphanet_358443 Label(s): solute carrier family 25 member 1 - 'solute carrier family 25 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'solute carrier family 25 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with mitochondrial defect' Class: http://www.orpha.net/ORDO/Orphanet_246 Label(s): Postaxial acrofacial dysostosis + 'Postaxial acrofacial dysostosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_358431 Label(s): solute carrier family 35 member A2 + 'solute carrier family 35 member A2' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_729224 Class: http://www.orpha.net/ORDO/Orphanet_119632 Label(s): ALMS1 centrosome and basal body associated protein + 'ALMS1 centrosome and basal body associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'ALMS1 centrosome and basal body associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' Class: http://www.orpha.net/ORDO/Orphanet_217 Label(s): Isolated Dandy-Walker malformation - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Posterior fossa malformation' - 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some 'Genetic posterior fossa malformation' + 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729563 + 'Isolated Dandy-Walker malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730393 Class: http://www.orpha.net/ORDO/Orphanet_716116 Label(s): Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome + 'Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_97120 Label(s): Distal arthrogryposis + 'Distal arthrogryposis' SubClassOf http://www.orpha.net/ORDO/Orphanet_723416 Class: http://www.orpha.net/ORDO/Orphanet_477661 Label(s): IL21-related infantile inflammatory bowel disease - 'IL21-related infantile inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_707177 Label(s): REL proto-oncogene, NF-kB subunit + 'REL proto-oncogene, NF-kB subunit' SubClassOf 'role in the phenotype of' some '2p15p16.1 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_60040 Label(s): Megalencephaly-capillary malformation-polymicrogyria syndrome + 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 Class: http://www.orpha.net/ORDO/Orphanet_140997 Label(s): Orofaciodigital syndrome + 'Orofaciodigital syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_1460 Label(s): Isolated complex III deficiency + 'Isolated complex III deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_431886 Label(s): solute carrier family 6 member 1 + 'solute carrier family 6 member 1' SubClassOf 'role in the phenotype of' some '3p25.3 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_166409 Label(s): Photosensitive occipital lobe epilepsy + 'Photosensitive occipital lobe epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726812 Class: http://www.orpha.net/ORDO/Orphanet_1454 Label(s): Joubert syndrome with hepatic defect - 'Joubert syndrome with hepatic defect' SubClassOf 'Disorder' - 'Joubert syndrome with hepatic defect' SubClassOf 'Disease' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with hepatic defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome with hepatic defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_432014 Label(s): torsin 1A interacting protein 1 + 'torsin 1A interacting protein 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_719914 Class: http://www.orpha.net/ORDO/Orphanet_168566 Label(s): Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + 'Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_140944 Label(s): CLOVES syndrome - 'CLOVES syndrome' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'CLOVES syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 + 'CLOVES syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723261 Class: http://www.orpha.net/ORDO/Orphanet_289008 Label(s): nitric oxide synthase 1 adaptor protein - 'nitric oxide synthase 1 adaptor protein' SubClassOf 'modifying germline mutation in' some 'Romano-Ward syndrome' - 'nitric oxide synthase 1 adaptor protein' SubClassOf 'gene with protein product' - 'nitric oxide synthase 1 adaptor protein' SubClassOf 'has_chromosomal location' value "1q23.3" Class: http://www.orpha.net/ORDO/Orphanet_156237 Label(s): Syndrome or malformation associated with head and neck malformations - 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'Genetic head and neck malformation' Class: http://www.orpha.net/ORDO/Orphanet_352718 Label(s): Progressive retinal dystrophy due to retinol transport defect - 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_406010 Label(s): activity dependent neuroprotector homeobox + 'activity dependent neuroprotector homeobox' SubClassOf 'disease-causing germline mutation(s) in' some 'ADNP-related blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_353314 Label(s): Pyruvate carboxylase deficiency, severe neonatal type + 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_99701 Label(s): Mesial temporal lobe epilepsy with hippocampal sclerosis - 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_1331 Label(s): Familial prostate cancer - 'Familial prostate cancer' SubClassOf 'Disorder' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare urinary tract tumor' - 'Familial prostate cancer' SubClassOf 'Disease' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Genetic urogenital tumor' - 'Familial prostate cancer' SubClassOf 'part_of' some 'Rare genetic urogenital disease' + 'Familial prostate cancer' SubClassOf 'Non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_251679 Label(s): Astroblastoma - 'Astroblastoma' SubClassOf 'part_of' some 'Glial tumor of neuroepithelial tissue with unknown origin' + 'Astroblastoma' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_251674 Label(s): Chordoid glioma - 'Chordoid glioma' SubClassOf 'part_of' some 'Glial tumor of neuroepithelial tissue with unknown origin' + 'Chordoid glioma' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_506353 Label(s): Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction + 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_198 Label(s): Occipital horn syndrome + 'Occipital horn syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_699844 Label(s): Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome + 'Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_160240 Label(s): espin + 'espin' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal dominant non-syndromic sensorineural deafness type DFNA' Class: http://www.orpha.net/ORDO/Orphanet_408692 Label(s): sarcolemma associated protein - 'sarcolemma associated protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sarcolemma associated protein' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714041 Label(s): Straatsma syndrome + 'Straatsma syndrome' SubClassOf 'part_of' some 'Rare isolated non-progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_99812 Label(s): LIG4 syndrome - 'LIG4 syndrome' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'LIG4 syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720308 Class: http://www.orpha.net/ORDO/Orphanet_294023 Label(s): Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome - 'Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_480898 Label(s): Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_251618 Label(s): Subependymal giant cell astrocytoma - 'Subependymal giant cell astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Subependymal giant cell astrocytoma' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_251612 Label(s): Pilocytic astrocytoma - 'Pilocytic astrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Pilocytic astrocytoma' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_138 Label(s): CHARGE syndrome + 'CHARGE syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_251607 Label(s): Pleomorphic xanthoastrocytoma - 'Pleomorphic xanthoastrocytoma' SubClassOf 'part_of' some 'Low-grade astrocytoma' + 'Pleomorphic xanthoastrocytoma' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_116 Label(s): Beckwith-Wiedemann syndrome + 'Beckwith-Wiedemann syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_107 Label(s): BOR syndrome + 'BOR syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_123772 Label(s): neurofibromin 1 + 'neurofibromin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Mosaic neurofibromatosis type 1' + 'neurofibromin 1' SubClassOf 'biomarker tested in' some 'High-grade astrocytoma with piloid features' Class: http://www.orpha.net/ORDO/Orphanet_715862 Label(s): Melanocytoma of the optic disc and optic nerve + 'Melanocytoma of the optic disc and optic nerve' SubClassOf 'part_of' some 'Rare eye tumor' Class: http://www.orpha.net/ORDO/Orphanet_466682 Label(s): Euthyroid Graves orbitopathy - 'Euthyroid Graves orbitopathy' SubClassOf 'part_of' some 'Structural developmental eye defect' + 'Euthyroid Graves orbitopathy' SubClassOf 'part_of' some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_715850 Label(s): Paraneoplastic acute exudative polymorphous vitelliform maculopathy + 'Paraneoplastic acute exudative polymorphous vitelliform maculopathy' SubClassOf 'part_of' some 'Paraneoplastic neurologic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139039 Label(s): Orofacial clefting syndrome + 'Orofacial clefting syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_269570 Label(s): Genetic syndrome with a Dandy-Walker malformation as a major feature - 'Genetic syndrome with a Dandy-Walker malformation as a major feature' SubClassOf 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Genetic syndrome with a Dandy-Walker malformation as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_730406 Class: http://www.orpha.net/ORDO/Orphanet_269567 Label(s): Genetic syndrome with a cerebellar malformation as a major feature - 'Genetic syndrome with a cerebellar malformation as a major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as a major feature' + 'Genetic syndrome with a cerebellar malformation as a major feature' SubClassOf 'Genetic cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_269560 Label(s): Genetic cerebellar malformation - 'Genetic cerebellar malformation' SubClassOf 'Genetic posterior fossa malformation' + 'Genetic cerebellar malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_730382 Class: http://www.orpha.net/ORDO/Orphanet_98516 Label(s): Malformation of the cerebellar hemispheres - 'Malformation of the cerebellar hemispheres' SubClassOf 'Cerebellar malformation' + 'Malformation of the cerebellar hemispheres' SubClassOf http://www.orpha.net/ORDO/Orphanet_729527 Class: http://www.orpha.net/ORDO/Orphanet_269557 Label(s): Genetic posterior fossa malformation - 'Genetic posterior fossa malformation' SubClassOf 'Group of disorders' - 'Genetic posterior fossa malformation' SubClassOf 'Genetic non-syndromic central nervous system malformation' + 'Genetic posterior fossa malformation' SubClassOf 'referred to' some 'Genetic central nervous system malformation' + 'Genetic posterior fossa malformation' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_269550 Label(s): Genetic non-syndromic central nervous system malformation - 'Genetic non-syndromic central nervous system malformation' SubClassOf 'Genetic central nervous system malformation' - 'Genetic non-syndromic central nervous system malformation' SubClassOf 'Group of disorders' + 'Genetic non-syndromic central nervous system malformation' SubClassOf 'referred to' some 'Genetic central nervous system malformation' + 'Genetic non-syndromic central nervous system malformation' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_269546 Label(s): Syndrome with a Dandy-Walker malformation as a major feature - 'Syndrome with a Dandy-Walker malformation as a major feature' SubClassOf 'Syndrome with a cerebellar malformation as a major feature' + 'Syndrome with a Dandy-Walker malformation as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_729566 Class: http://www.orpha.net/ORDO/Orphanet_613267 Label(s): Pontocerebellar hypoplasia type 13 - 'Pontocerebellar hypoplasia type 13' SubClassOf 'Malformation syndrome' - 'Pontocerebellar hypoplasia type 13' SubClassOf 'Disorder' + 'Pontocerebellar hypoplasia type 13' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_228426 Label(s): Syndromic multisystem autoimmune disease due to Itch deficiency + 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_519321 Label(s): OBSOLETE: Syndromic chorioretinal dystrophy + 'OBSOLETE: Syndromic chorioretinal dystrophy' SubClassOf 'referred to' some 'Rare predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_519319 Label(s): OBSOLETE: Isolated stationary inherited retinal disorder + 'OBSOLETE: Isolated stationary inherited retinal disorder' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_269523 Label(s): Syndrome with a cerebellar malformation as a major feature - 'Syndrome with a cerebellar malformation as a major feature' SubClassOf 'Syndrome with a central nervous system malformation as a major feature' + 'Syndrome with a cerebellar malformation as a major feature' SubClassOf 'Cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_519306 Label(s): OBSOLETE: Isolated progressive inherited retinal disorder + 'OBSOLETE: Isolated progressive inherited retinal disorder' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_365133 Label(s): DNA polymerase delta 1, catalytic subunit - 'DNA polymerase delta 1, catalytic subunit' SubClassOf 'has_chromosomal location' value "19q13.3" + 'DNA polymerase delta 1, catalytic subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to polymerase delta deficiency' + 'DNA polymerase delta 1, catalytic subunit' SubClassOf 'has_chromosomal location' value "19q13.33" Class: http://www.orpha.net/ORDO/Orphanet_519300 Label(s): OBSOLETE: Isolated chorioretinal dystrophy + 'OBSOLETE: Isolated chorioretinal dystrophy' SubClassOf 'referred to' some 'Rare predominantly chorioretinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_247834 Label(s): Occult macular dystrophy - 'Occult macular dystrophy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_284454 Label(s): Acute zonal occult outer retinopathy - 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Acute zonal occult outer retinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 Class: http://www.orpha.net/ORDO/Orphanet_1361 Label(s): Carnosinase deficiency + 'Carnosinase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_69739 Label(s): Athabaskan brainstem dysgenesis syndrome - 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'part_of' some 'Rare genetic neurological disorder' + 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_1359 Label(s): Carney complex + 'Carney complex' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_247585 Label(s): Citrullinemia type II + 'Citrullinemia type II' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_108989 Label(s): Non-syndromic central nervous system malformation - 'Non-syndromic central nervous system malformation' SubClassOf 'Central nervous system malformation' - 'Non-syndromic central nervous system malformation' SubClassOf 'Group of disorders' + 'Non-syndromic central nervous system malformation' SubClassOf 'Obsolete group of disorder' + 'Non-syndromic central nervous system malformation' SubClassOf 'referred to' some 'Central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_314399 Label(s): Autosomal dominant aplasia and myelodysplasia + 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_2318 Label(s): Joubert syndrome with oculorenal defect - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'Malformation syndrome' - 'Joubert syndrome with oculorenal defect' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Joubert syndrome with oculorenal defect' SubClassOf 'Disorder' + 'Joubert syndrome with oculorenal defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_91397 Label(s): Isolated ankyloblepharon filiforme adnatum + 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_744 Label(s): Proteus syndrome + 'Proteus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_479262 Label(s): myosin IXA - 'myosin IXA' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'myosin IXA' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndromes due to defective axonal transport' Class: http://www.orpha.net/ORDO/Orphanet_422270 Label(s): calmodulin 2 - 'calmodulin 2' SubClassOf 'candidate gene tested in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'calmodulin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'calmodulin 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727192 + 'calmodulin 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730657 Class: http://www.orpha.net/ORDO/Orphanet_91378 Label(s): Hereditary angioedema - 'Hereditary angioedema' SubClassOf 'Rare genetic disease' + 'Hereditary angioedema' SubClassOf 'Rare genetic immune disease' Class: http://www.orpha.net/ORDO/Orphanet_2195 Label(s): Dicarboxylic aminoaciduria + 'Dicarboxylic aminoaciduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_519323 Label(s): OBSOLETE: Syndromic macular dystrophy + 'OBSOLETE: Syndromic macular dystrophy' SubClassOf 'referred to' some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_117673 Label(s): ATP binding cassette subfamily C member 9 + 'ATP binding cassette subfamily C member 9' SubClassOf 'major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_728619 + 'ATP binding cassette subfamily C member 9' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726782 Class: http://www.orpha.net/ORDO/Orphanet_700170 Label(s): DNAJB4-related distal myopathy - 'DNAJB4-related distal myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_714154 Label(s): Idiopathic multifocal choroiditis + 'Idiopathic multifocal choroiditis' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_714164 Label(s): Acute posterior multifocal placoid pigment epitheliopathy + 'Acute posterior multifocal placoid pigment epitheliopathy' SubClassOf 'part_of' some 'Non-infectious posterior uveitis' Class: http://www.orpha.net/ORDO/Orphanet_97339 Label(s): Dural sinus malformation with arteriovenous shunt - 'Dural sinus malformation with arteriovenous shunt' SubClassOf 'part_of' some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_674947 Label(s): Diffuse unilateral subacute neuroretinitis - 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Diffuse unilateral subacute neuroretinitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 Class: http://www.orpha.net/ORDO/Orphanet_353497 Label(s): G protein subunit alpha q - 'G protein subunit alpha q' SubClassOf 'disease-causing somatic mutation(s) in' some 'Uveal melanoma' + 'G protein subunit alpha q' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723195 + 'G protein subunit alpha q' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723203 Class: http://www.orpha.net/ORDO/Orphanet_119411 Label(s): cholinergic receptor nicotinic alpha 1 subunit - 'cholinergic receptor nicotinic alpha 1 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Postsynaptic congenital myasthenic syndrome' - 'cholinergic receptor nicotinic alpha 1 subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Postsynaptic congenital myasthenic syndrome' + 'cholinergic receptor nicotinic alpha 1 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Slow-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic alpha 1 subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Fast-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic alpha 1 subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_97286 Label(s): Carney-Stratakis syndrome + 'Carney-Stratakis syndrome' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_308410 Label(s): Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_121651 Label(s): EYA transcriptional coactivator and phosphatase 1 - 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'EYA transcriptional coactivator and phosphatase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_720341 Class: http://www.orpha.net/ORDO/Orphanet_412551 Label(s): splicing factor 3b subunit 1 - 'splicing factor 3b subunit 1' SubClassOf 'biomarker tested in' some 'Uveal melanoma' + 'splicing factor 3b subunit 1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_723195 + 'splicing factor 3b subunit 1' SubClassOf 'biomarker tested in' some http://www.orpha.net/ORDO/Orphanet_723203 Class: http://www.orpha.net/ORDO/Orphanet_171851 Label(s): MEDNIK syndrome + 'MEDNIK syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_139145 Label(s): BCL11 transcription factor A + 'BCL11 transcription factor A' SubClassOf 'role in the phenotype of' some '2p15p16.1 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_694228 Label(s): Congenital intrahepatic arterioportal fistula - 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Simple vascular malformation' + 'Congenital intrahepatic arterioportal fistula' SubClassOf 'part_of' some 'Visceral arteriovenous malformation' Class: http://www.orpha.net/ORDO/Orphanet_121202 Label(s): dentin sialophosphoprotein - 'dentin sialophosphoprotein' SubClassOf 'disease-causing germline mutation(s) in' some 'Dentin dysplasia type I' Class: http://www.orpha.net/ORDO/Orphanet_228337 Label(s): CLN10 disease - 'CLN10 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_121867 Label(s): filamin C + 'filamin C' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' + 'filamin C' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant' Class: http://www.orpha.net/ORDO/Orphanet_53540 Label(s): Goldmann-Favre syndrome - 'Goldmann-Favre syndrome' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_696874 Label(s): NFKB1-related immune dysregulation + 'NFKB1-related immune dysregulation' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'NFKB1-related immune dysregulation' SubClassOf 'part_of' some 'Inherited cancer-predisposing lymphoproliferative syndrome' Class: http://www.orpha.net/ORDO/Orphanet_332108 Label(s): ETS2 repressor factor - 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Crouzon syndrome' + 'ETS2 repressor factor' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726700 Class: http://www.orpha.net/ORDO/Orphanet_470504 Label(s): INO80 complex ATPase subunit - 'INO80 complex ATPase subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency with granulomatosis' + 'INO80 complex ATPase subunit' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723146 Class: http://www.orpha.net/ORDO/Orphanet_238547 Label(s): Acquired secondary polycythemia - 'Acquired secondary polycythemia' SubClassOf 'Secondary polycythemia' - 'Acquired secondary polycythemia' SubClassOf 'Group of disorders' + 'Acquired secondary polycythemia' SubClassOf 'referred to' some 'Polycythemia' + 'Acquired secondary polycythemia' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_276280 Label(s): Hemihyperplasia-multiple lipomatosis syndrome + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 + 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 Class: http://www.orpha.net/ORDO/Orphanet_457062 Label(s): Pseudohypoparathyroidism without Albright hereditary osteodystrophy - 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' - 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Group of disorders' + 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Obsolete group of disorder' + 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'referred to' some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_1214 Label(s): Progressive hemifacial atrophy + 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Mixed autoinflammatory and autoimmune syndrome' + 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Progressive hemifacial atrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 + 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Mixed dermis disorder' + 'Progressive hemifacial atrophy' SubClassOf 'part_of' some 'Rare disorder involving multiple structures of the eye' Class: http://www.orpha.net/ORDO/Orphanet_708881 Label(s): Phenylalanine hydroxylase deficiency + 'Phenylalanine hydroxylase deficiency' SubClassOf 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_699678 Label(s): Necrotizing cellulitis + 'Necrotizing cellulitis' SubClassOf 'part_of' some 'Subcutaneous tissue disease' Class: http://www.orpha.net/ORDO/Orphanet_269531 Label(s): Other syndrome with a central nervous system malformation as a major feature - 'Other syndrome with a central nervous system malformation as a major feature' SubClassOf 'Syndrome with a central nervous system malformation as a major feature' + 'Other syndrome with a central nervous system malformation as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_94090 Label(s): Pseudohypoparathyroidism type 2 - 'Pseudohypoparathyroidism type 2' SubClassOf 'part_of' some 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 2' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_52417 Label(s): MALT lymphoma + 'MALT lymphoma' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_94089 Label(s): Pseudohypoparathyroidism type 1B - 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some 'Pseudohypoparathyroidism without Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1B' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_530033 Label(s): Dermoid or epidermoid cyst of the central nervous system - 'Dermoid or epidermoid cyst of the central nervous system' SubClassOf 'part_of' some 'Genetic non-syndromic central nervous system malformation' + 'Dermoid or epidermoid cyst of the central nervous system' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730707 Class: http://www.orpha.net/ORDO/Orphanet_699605 Label(s): NEMO deleted exon 5 autoinflammatory syndrome + 'NEMO deleted exon 5 autoinflammatory syndrome' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_700516 Label(s): sorbitol dehydrogenase + 'sorbitol dehydrogenase' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_121567 Label(s): EPH receptor B2 - 'EPH receptor B2' SubClassOf 'has_chromosomal location' value "1p36.12" - 'EPH receptor B2' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'EPH receptor B2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_700508 Label(s): Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy + 'Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_86814 Label(s): Familial adult myoclonic epilepsy - 'Familial adult myoclonic epilepsy' SubClassOf 'part_of' some 'Adolescent-onset epilepsy syndrome' + 'Familial adult myoclonic epilepsy' SubClassOf 'part_of' some 'Variable age-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2203 Label(s): Hyperlysinemia + 'Hyperlysinemia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_124137 Label(s): proprotein convertase subtilisin/kexin type 9 + 'proprotein convertase subtilisin/kexin type 9' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727932 Class: http://www.orpha.net/ORDO/Orphanet_715640 Label(s): Rothmund-Thomson syndrome type 3 + 'Rothmund-Thomson syndrome type 3' SubClassOf 'part_of' some 'Rothmund-Thomson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121529 Label(s): empty spiracles homeobox 2 + 'empty spiracles homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Normosmic congenital hypogonadotropic hypogonadism' + 'empty spiracles homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Kallmann syndrome' Class: http://www.orpha.net/ORDO/Orphanet_2215 Label(s): Multiple pterygium-malignant hyperthermia syndrome + 'Multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_1465 Label(s): Coffin-Siris syndrome - 'Coffin-Siris syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations' Class: http://www.orpha.net/ORDO/Orphanet_121513 Label(s): elaC ribonuclease Z 2 - 'elaC ribonuclease Z 2' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_319651 Label(s): Constitutional megaloblastic anemia with severe neurologic disease + 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_570762 Label(s): Infective endocarditis - 'Infective endocarditis' SubClassOf 'part_of' some 'Non-familial restrictive cardiomyopathy' + 'Infective endocarditis' SubClassOf 'part_of' some 'Rare cardiac disease' Class: http://www.orpha.net/ORDO/Orphanet_437664 Label(s): RAD54 like - 'RAD54 like' SubClassOf 'candidate gene tested in' some 'Hereditary breast cancer' - 'RAD54 like' SubClassOf 'gene with protein product' - 'RAD54 like' SubClassOf 'has_chromosomal location' value "1p34.1" Class: http://www.orpha.net/ORDO/Orphanet_585877 Label(s): B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' - 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'part_of' some 'Inherited hematologic cancer-predisposing syndrome' - 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'Subtype of a disorder' + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'Obsolete subtype of disorder' + 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'referred to' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_1187 Label(s): Lethal ataxia with deafness and optic atrophy + 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1186 Label(s): Infantile-onset spinocerebellar ataxia + 'Infantile-onset spinocerebellar ataxia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_468641 Label(s): Chronic enteropathy associated with SLCO2A1 gene - 'Chronic enteropathy associated with SLCO2A1 gene' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_232248 Label(s): IQ motif and Sec7 domain ArfGEF 2 - 'IQ motif and Sec7 domain ArfGEF 2' SubClassOf 'candidate gene tested in' some 'Smith-Magenis syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139480 Label(s): Autosomal recessive spastic paraplegia type 39 + 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_121386 Label(s): apolipoprotein B + 'apolipoprotein B' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727915 Class: http://www.orpha.net/ORDO/Orphanet_71862 Label(s): OBSOLETE: Inherited retinal disorder + 'OBSOLETE: Inherited retinal disorder' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_906 Label(s): Wiskott-Aldrich syndrome + 'Wiskott-Aldrich syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_98664 Label(s): OBSOLETE: Genetic macular dystrophy - 'OBSOLETE: Genetic macular dystrophy' SubClassOf 'referred to' some 'OBSOLETE: Inherited retinal disorder' + 'OBSOLETE: Genetic macular dystrophy' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_363294 Label(s): Genetic syndromic Pierre Robin syndrome - 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' + 'Genetic syndromic Pierre Robin syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_2268 Label(s): ICF syndrome + 'ICF syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_239898 Label(s): PDZ domain containing 7 + 'PDZ domain containing 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Rare autosomal recessive non-syndromic sensorineural deafness type DFNB' Class: http://www.orpha.net/ORDO/Orphanet_281857 Label(s): hemoglobin subunit delta - 'hemoglobin subunit delta' SubClassOf 'part of a fusion gene in' some 'Hemoglobin Lepore-beta-thalassemia syndrome' + 'hemoglobin subunit delta' SubClassOf 'part of a fusion gene in' some 'Hemoglobin Lepore-beta-thalassemia major' + 'hemoglobin subunit delta' SubClassOf 'part of a fusion gene in' some 'Hemoglobin Lepore-beta-thalassemia intermedia' Class: http://www.orpha.net/ORDO/Orphanet_699599 Label(s): ICHAD syndrome + 'ICHAD syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ICHAD syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'ICHAD syndrome' SubClassOf 'part_of' some 'Rare syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_939 Label(s): 3-hydroxyisobutyric aciduria + '3-hydroxyisobutyric aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_943 Label(s): Malonic aciduria + 'Malonic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_600633 Label(s): H4 clustered histone 5 - 'H4 clustered histone 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'H4 clustered histone 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139411 Label(s): Carney triad + 'Carney triad' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_478029 Label(s): Combined oxidative phosphorylation defect type 29 + 'Combined oxidative phosphorylation defect type 29' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_119127 Label(s): calcium binding protein 4 + 'calcium binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' + 'calcium binding protein 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' Class: http://www.orpha.net/ORDO/Orphanet_314894 Label(s): vesicle associated membrane protein 1 - 'vesicle associated membrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'vesicle associated membrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_263665 Label(s): NK-cell enteropathy - 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare gastroenterologic disease' + 'NK-cell enteropathy' SubClassOf 'part_of' some 'Rare intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_36387 Label(s): Genetic epilepsy with febrile seizure plus - 'Genetic epilepsy with febrile seizure plus' SubClassOf 'part_of' some 'Familial partial epilepsy' - 'Genetic epilepsy with febrile seizure plus' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Genetic epilepsy with febrile seizure plus' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_36386 Label(s): Hereditary sensory and autonomic neuropathy type 1 + 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_91139 Label(s): Simple cryoglobulinemia - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Peripheral neuropathy associated with monoclonal gammopathy' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Systemic autoimmune disease' - 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Rare thrombotic disorder due to an acquired coagulation factors defect' + 'Simple cryoglobulinemia' SubClassOf 'part_of' some 'Rare hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_437180 Label(s): calmodulin 3 - 'calmodulin 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' - 'calmodulin 3' SubClassOf 'candidate gene tested in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calmodulin 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727192 + 'calmodulin 3' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730657 Class: http://www.orpha.net/ORDO/Orphanet_158581 Label(s): TAR DNA binding protein + 'TAR DNA binding protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_1675 Label(s): Dihydropyrimidine dehydrogenase deficiency + 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_86913 Label(s): Myoclonic epilepsy in non-progressive encephalopathies - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Malformation syndrome' - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Disorder' - 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'part_of' some 'Variable age-onset epilepsy syndrome' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Obsolete disorder' + 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'referred to' some 'Neonatal-infantile onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715623 Label(s): Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome - 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'Disease' + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'Malformation syndrome' + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'part_of' some 'Non-dystrophic myopathy' + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia' + 'Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy' Class: http://www.orpha.net/ORDO/Orphanet_674762 Label(s): Early-onset autoinflammatory syndrome due to A20 haploinsufficiency + 'Early-onset autoinflammatory syndrome due to A20 haploinsufficiency' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_121493 Label(s): ATPase cation transporting 13A2 + 'ATPase cation transporting 13A2' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_619972 Label(s): CADINS disease + 'CADINS disease' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_118703 Label(s): sonic hedgehog signaling molecule - 'sonic hedgehog signaling molecule' SubClassOf 'disease-causing germline mutation(s) in' some 'Colobomatous microphthalmia' + 'sonic hedgehog signaling molecule' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730721 Class: http://www.orpha.net/ORDO/Orphanet_199639 Label(s): Syndrome with corpus callosum agenesis/dysgenesis as a major feature - 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'Syndrome with a central nervous system malformation as a major feature' + 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_199633 Label(s): Non-syndromic cerebral malformation - 'Non-syndromic cerebral malformation' SubClassOf 'Non-syndromic central nervous system malformation' + 'Non-syndromic cerebral malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_121474 Label(s): ATM serine/threonine kinase - 'ATM serine/threonine kinase' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'ATM serine/threonine kinase' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_320785 Label(s): solute carrier family 5 member 7 - 'solute carrier family 5 member 7' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Presynaptic congenital myasthenic syndromes' + 'solute carrier family 5 member 7' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine' Class: http://www.orpha.net/ORDO/Orphanet_585918 Label(s): B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_122763 Label(s): potassium voltage-gated channel subfamily E regulatory subunit 1 - 'potassium voltage-gated channel subfamily E regulatory subunit 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel subfamily E regulatory subunit 1' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_727185 Class: http://www.orpha.net/ORDO/Orphanet_686493 Label(s): RNA, U4 small nuclear 2 + 'RNA, U4 small nuclear 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_122770 Label(s): potassium voltage-gated channel subfamily E regulatory subunit 2 - 'potassium voltage-gated channel subfamily E regulatory subunit 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel subfamily E regulatory subunit 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_727178 Class: http://www.orpha.net/ORDO/Orphanet_122777 Label(s): potassium voltage-gated channel subfamily H member 2 - 'potassium voltage-gated channel subfamily H member 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' + 'potassium voltage-gated channel subfamily H member 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_727149 Class: http://www.orpha.net/ORDO/Orphanet_585942 Label(s): B-lymphoblastic leukemia/lymphoma with hypodiploidy - 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_269229 Label(s): Pontine tegmental cap dysplasia - 'Pontine tegmental cap dysplasia' SubClassOf 'part_of' some 'Posterior fossa malformation' + 'Pontine tegmental cap dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729519 Class: http://www.orpha.net/ORDO/Orphanet_585936 Label(s): B-lymphoblastic leukemia/lymphoma with hyperdiploidy - 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with hyperdiploidy' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_269224 Label(s): Global cerebellar malformation - 'Global cerebellar malformation' SubClassOf 'Cerebellar malformation' + 'Global cerebellar malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_729527 Class: http://www.orpha.net/ORDO/Orphanet_585956 Label(s): B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_585929 Label(s): B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - 'B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_269215 Label(s): Isolated Dandy-Walker malformation without hydrocephalus - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Subtype of a disorder' - 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'referred to' some 'Isolated Dandy-Walker malformation' + 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Obsolete subtype of disorder' Class: http://www.orpha.net/ORDO/Orphanet_269212 Label(s): Isolated Dandy-Walker malformation with hydrocephalus - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'part_of' some 'Isolated Dandy-Walker malformation' - 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Subtype of a disorder' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Obsolete subtype of disorder' + 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'referred to' some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_285118 Label(s): RNA polymerase III subunit B - 'RNA polymerase III subunit B' SubClassOf 'disease-causing germline mutation(s) in' some 'Endosteal sclerosis-cerebellar hypoplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_319519 Label(s): Combined oxidative phosphorylation defect type 14 + 'Combined oxidative phosphorylation defect type 14' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_319514 Label(s): Combined oxidative phosphorylation defect type 13 + 'Combined oxidative phosphorylation defect type 13' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_269200 Label(s): OBSOLETE: Retrocerebellar cyst - 'OBSOLETE: Retrocerebellar cyst' SubClassOf 'referred to' some 'Arachnoid cyst' + 'OBSOLETE: Retrocerebellar cyst' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_729563 Class: http://www.orpha.net/ORDO/Orphanet_566862 Label(s): Left isomerism - 'Left isomerism' SubClassOf 'Disorder' - 'Left isomerism' SubClassOf 'Malformation syndrome' + 'Left isomerism' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_1071 Label(s): Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + 'Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_585909 Label(s): B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' + 'B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)' SubClassOf 'part_of' some 'Precursor B-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_477684 Label(s): Combined oxidative phosphorylation defect type 26 + 'Combined oxidative phosphorylation defect type 26' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_1053 Label(s): Vein of Galen malformation - 'Vein of Galen malformation' SubClassOf 'part_of' some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_330703 Label(s): transcription factor 12 + 'transcription factor 12' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniosynostosis-facial dysmorphism-brachydactyly syndrome' Class: http://www.orpha.net/ORDO/Orphanet_613274 Label(s): Pontocerebellar hypoplasia type 14 - 'Pontocerebellar hypoplasia type 14' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 14' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 14' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_140560 Label(s): ATP binding cassette subfamily A member 3 - 'ATP binding cassette subfamily A member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Neonatal acute respiratory distress syndrome' Class: http://www.orpha.net/ORDO/Orphanet_168165 Label(s): left-right determination factor 2 - 'left-right determination factor 2' SubClassOf 'has_chromosomal location' value "1q42.12" - 'left-right determination factor 2' SubClassOf 'gene with protein product' - 'left-right determination factor 2' SubClassOf 'major susceptibility factor in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_1037 Label(s): Arthrogryposis multiplex congenita + 'Arthrogryposis multiplex congenita' SubClassOf http://www.orpha.net/ORDO/Orphanet_723416 Class: http://www.orpha.net/ORDO/Orphanet_158401 Label(s): solute carrier family 11 member 1 - 'solute carrier family 11 member 1' SubClassOf 'major susceptibility factor in' some 'Tuberculosis' + 'solute carrier family 11 member 1' SubClassOf 'major susceptibility factor in' some 'Primary pulmonary tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_244400 Label(s): serine palmitoyltransferase long chain base subunit 2 + 'serine palmitoyltransferase long chain base subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_247262 Label(s): Hyperphosphatasia-intellectual disability syndrome + 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_33475 Label(s): Meningococcal meningitis - 'Meningococcal meningitis' SubClassOf 'Disease' - 'Meningococcal meningitis' SubClassOf 'part_of' some 'Infectious disease with epilepsy' - 'Meningococcal meningitis' SubClassOf 'Disorder' - 'Meningococcal meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system' + 'Meningococcal meningitis' SubClassOf 'moved to' some http://www.orpha.net/ORDO/Orphanet_730396 + 'Meningococcal meningitis' SubClassOf 'Deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_708684 Label(s): Eosinophilic cystitis + 'Eosinophilic cystitis' SubClassOf 'part_of' some 'Rare urogenital disease' Class: http://www.orpha.net/ORDO/Orphanet_457284 Label(s): Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Malformation syndrome' - 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Disorder' + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726644 + 'Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_251287 Label(s): Benign concentric annular macular dystrophy - 'Benign concentric annular macular dystrophy' SubClassOf 'Disorder' - 'Benign concentric annular macular dystrophy' SubClassOf 'part_of' some 'Rare isolated non-progressive generalized retinal disorder' - 'Benign concentric annular macular dystrophy' SubClassOf 'Disease' + 'Benign concentric annular macular dystrophy' SubClassOf 'Deprecated disorder' + 'Benign concentric annular macular dystrophy' SubClassOf 'moved to' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_120120 Label(s): thymidine kinase 2 - 'thymidine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Mitochondrial DNA depletion syndrome, myopathic form' + 'thymidine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730740 + 'thymidine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730743 + 'thymidine kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730746 Class: http://www.orpha.net/ORDO/Orphanet_708651 Label(s): Phosphoribosylformylglycinamidine synthase deficiency + 'Phosphoribosylformylglycinamidine synthase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Phosphoribosylformylglycinamidine synthase deficiency' SubClassOf 'part_of' some 'Disorder of purine metabolism' + 'Phosphoribosylformylglycinamidine synthase deficiency' SubClassOf 'part_of' some 'Other metabolic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_314022 Label(s): Gastric adenocarcinoma and proximal polyposis of the stomach + 'Gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714429 Label(s): Pseudo-TORCH syndrome type 3 + 'Pseudo-TORCH syndrome type 3' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Pseudo-TORCH syndrome type 3' SubClassOf 'part_of' some 'Type 1 interferonopathy' + 'Pseudo-TORCH syndrome type 3' SubClassOf 'part_of' some 'Type 1 interferonopathy of childhood' + 'Pseudo-TORCH syndrome type 3' SubClassOf 'part_of' some 'Brain inflammatory disease' Class: http://www.orpha.net/ORDO/Orphanet_329173 Label(s): Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis + 'Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_713 Label(s): Glycogen storage disease due to phosphoglycerate kinase 1 deficiency + 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_458833 Label(s): Common cystic lymphatic malformation - 'Common cystic lymphatic malformation' SubClassOf 'Isolated rare lymphatic malformation' - 'Common cystic lymphatic malformation' SubClassOf 'Group of disorders' - 'Common cystic lymphatic malformation' SubClassOf 'Syndrome or malformation associated with head and neck malformations' + 'Common cystic lymphatic malformation' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Common cystic lymphatic malformation' SubClassOf 'Disease' + 'Common cystic lymphatic malformation' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' + 'Common cystic lymphatic malformation' SubClassOf 'Disorder' + 'Common cystic lymphatic malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_205932 Label(s): SEC23 homolog B, COPII component - 'SEC23 homolog B, COPII component' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_542301 Label(s): EBV-induced lymphoproliferative disease due to CARMIL2 deficiency + 'EBV-induced lymphoproliferative disease due to CARMIL2 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1775 Label(s): Dyskeratosis congenita - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Malformation syndrome with hamartosis' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Syndromic lacrimal system disorder' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' - 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Dyskeratosis congenita' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 + 'Dyskeratosis congenita' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_645859 Label(s): Primary tuberculosis of the digestive system - 'Primary tuberculosis of the digestive system' SubClassOf 'part_of' some 'Rare gastroenterologic disease' - 'Primary tuberculosis of the digestive system' SubClassOf 'Disease' - 'Primary tuberculosis of the digestive system' SubClassOf 'Disorder' - 'Primary tuberculosis of the digestive system' SubClassOf 'part_of' some 'Tuberculosis' + 'Primary tuberculosis of the digestive system' SubClassOf 'Obsolete disorder' + 'Primary tuberculosis of the digestive system' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_645854 Label(s): Multifocal tuberculosis - 'Multifocal tuberculosis' SubClassOf 'Disorder' - 'Multifocal tuberculosis' SubClassOf 'part_of' some 'Pituitary hormone deficiency secondary to a granulomatous disease' - 'Multifocal tuberculosis' SubClassOf 'Disease' + 'Multifocal tuberculosis' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_650051 Label(s): F-box protein 43 + 'F-box protein 43' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_210110 Label(s): Intermediate osteopetrosis + 'Intermediate osteopetrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_499004 Label(s): OBSOLETE: Tuberculous meningitis - 'OBSOLETE: Tuberculous meningitis' SubClassOf 'referred to' some 'Central nervous system tuberculosis' + 'OBSOLETE: Tuberculous meningitis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_645849 Label(s): Primary cutaneous tuberculosis - 'Primary cutaneous tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' - 'Primary cutaneous tuberculosis' SubClassOf 'Disease' - 'Primary cutaneous tuberculosis' SubClassOf 'Disorder' - 'Primary cutaneous tuberculosis' SubClassOf 'part_of' some 'Other acquired skin disease' + 'Primary cutaneous tuberculosis' SubClassOf 'Obsolete disorder' + 'Primary cutaneous tuberculosis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_475300 Label(s): polycystin 1 like 1, transient receptor potential channel interacting - 'polycystin 1 like 1, transient receptor potential channel interacting' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_95431 Label(s): Twin to twin transfusion syndrome - 'Twin to twin transfusion syndrome' SubClassOf 'part_of' some 'Rare immune disease' Class: http://www.orpha.net/ORDO/Orphanet_645822 Label(s): Primary bone and joint tuberculosis - 'Primary bone and joint tuberculosis' SubClassOf 'part_of' some 'Rare bone disease' - 'Primary bone and joint tuberculosis' SubClassOf 'Disease' - 'Primary bone and joint tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' - 'Primary bone and joint tuberculosis' SubClassOf 'Disorder' + 'Primary bone and joint tuberculosis' SubClassOf 'Obsolete disorder' + 'Primary bone and joint tuberculosis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_700325 Label(s): NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome + 'NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome' SubClassOf 'part_of' some 'Overgrowth or tall stature syndrome with skeletal involvement' Class: http://www.orpha.net/ORDO/Orphanet_121360 Label(s): ankyrin 2 - 'ankyrin 2' SubClassOf 'gene with protein product' - 'ankyrin 2' SubClassOf 'has_chromosomal location' value "4q25-q26" - 'ankyrin 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_269194 Label(s): Central nervous system cystic malformation - 'Central nervous system cystic malformation' SubClassOf 'Non-syndromic central nervous system malformation' + 'Central nervous system cystic malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_717588 Label(s): Localized intravascular coagulation + 'Localized intravascular coagulation' SubClassOf 'part_of' some 'Rare coagulation disorder' Class: http://www.orpha.net/ORDO/Orphanet_319494 Label(s): Familial nonmedullary thyroid carcinoma + 'Familial nonmedullary thyroid carcinoma' SubClassOf 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_39044 Label(s): Uveal melanoma - 'Uveal melanoma' SubClassOf 'Disease' - 'Uveal melanoma' SubClassOf 'Disorder' - 'Uveal melanoma' SubClassOf 'part_of' some 'Rare malignant neoplastic choroidal disorder' + 'Uveal melanoma' SubClassOf 'referred to' some 'Rare eye tumor' + 'Uveal melanoma' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_39041 Label(s): Omenn syndrome + 'Omenn syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_319487 Label(s): Familial papillary or follicular thyroid carcinoma + 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_494433 Label(s): MIRAGE syndrome + 'MIRAGE syndrome' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' + 'MIRAGE syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_119968 Label(s): T-box transcription factor 5 - 'T-box transcription factor 5' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_718255 Label(s): Rare Y-linked non-syndromic sensorineural deafness type DFNY + 'Rare Y-linked non-syndromic sensorineural deafness type DFNY' SubClassOf 'part_of' some 'Rare non-syndromic genetic deafness' Class: http://www.orpha.net/ORDO/Orphanet_118513 Label(s): sodium voltage-gated channel alpha subunit 5 - 'sodium voltage-gated channel alpha subunit 5' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Romano-Ward syndrome' + 'sodium voltage-gated channel alpha subunit 5' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some http://www.orpha.net/ORDO/Orphanet_727203 + 'sodium voltage-gated channel alpha subunit 5' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723139 Class: http://www.orpha.net/ORDO/Orphanet_228003 Label(s): Severe combined immunodeficiency due to CORO1A deficiency - 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_464329 Label(s): Kaposiform lymphangiomatosis - 'Kaposiform lymphangiomatosis' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' + 'Kaposiform lymphangiomatosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_719950 Class: http://www.orpha.net/ORDO/Orphanet_397695 Label(s): 3q27.3 microdeletion syndrome - '3q27.3 microdeletion syndrome' SubClassOf 'Deprecated disorder' - '3q27.3 microdeletion syndrome' SubClassOf 'moved to' some '3q26q28 deletion syndrome' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '3q27.3 microdeletion syndrome' SubClassOf 'Disease' + '3q27.3 microdeletion syndrome' SubClassOf 'Disorder' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3 syndrome' + '3q27.3 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_306106 Label(s): cilia and flagella associated protein 53 - 'cilia and flagella associated protein 53' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_123961 Label(s): neurotrophic receptor tyrosine kinase 1 + 'neurotrophic receptor tyrosine kinase 1' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma NTRK-altered' Class: http://www.orpha.net/ORDO/Orphanet_35 Label(s): Propionic acidemia + 'Propionic acidemia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_529665 Label(s): Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_218358 Label(s): syntrophin alpha 1 - 'syntrophin alpha 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Romano-Ward syndrome' - 'syntrophin alpha 1' SubClassOf 'gene with protein product' - 'syntrophin alpha 1' SubClassOf 'has_chromosomal location' value "20q11.21" Class: http://www.orpha.net/ORDO/Orphanet_458837 Label(s): Rare combined vascular malformation - 'Rare combined vascular malformation' SubClassOf 'Rare vascular anomaly' + 'Rare combined vascular malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_33355 Label(s): Reticular dysgenesis - 'Reticular dysgenesis' SubClassOf 'part_of' some 'T-B- severe combined immunodeficiency' + 'Reticular dysgenesis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720294 Class: http://www.orpha.net/ORDO/Orphanet_2396 Label(s): Encephalocraniocutaneous lipomatosis + 'Encephalocraniocutaneous lipomatosis' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' Class: http://www.orpha.net/ORDO/Orphanet_85179 Label(s): Infantile osteopetrosis with neuroaxonal dysplasia + 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_1842 Label(s): Bone dysplasia, lethal Holmgren type - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Malformation syndrome' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'part_of' some 'Lethal chondrodysplasia' - 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Disorder' + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'referred to' some 'Desbuquois syndrome' + 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Obsolete disorder' Class: http://www.orpha.net/ORDO/Orphanet_313772 Label(s): Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + 'Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_500509 Label(s): protein phosphatase 3 catalytic subunit alpha - 'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_48471 Label(s): Lissencephaly - 'Lissencephaly' SubClassOf 'Syndrome with a central nervous system malformation as a major feature' + 'Lissencephaly' SubClassOf http://www.orpha.net/ORDO/Orphanet_729560 Class: http://www.orpha.net/ORDO/Orphanet_371364 Label(s): Hypotonia-speech impairment-severe cognitive delay syndrome - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' - 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'part_of' some 'Neurological muscular channelopathy due to a genetic sodium channel defect' Class: http://www.orpha.net/ORDO/Orphanet_35078 Label(s): T-B+ severe combined immunodeficiency due to JAK3 deficiency - 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720287 Class: http://www.orpha.net/ORDO/Orphanet_158588 Label(s): HNF1 homeobox B - 'HNF1 homeobox B' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_250977 Label(s): AICA-ribosiduria + 'AICA-ribosiduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_519304 Label(s): OBSOLETE: Isolated vitreoretinopathy + 'OBSOLETE: Isolated vitreoretinopathy' SubClassOf 'referred to' some 'Vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_171848 Label(s): Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome + 'Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_118558 Label(s): succinate dehydrogenase complex subunit C - 'succinate dehydrogenase complex subunit C' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' Class: http://www.orpha.net/ORDO/Orphanet_250932 Label(s): Autosomal dominant optic atrophy and peripheral neuropathy + 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_664711 Label(s): EBV-induced lymphoproliferative disease due to PRKCD deficiency + 'EBV-induced lymphoproliferative disease due to PRKCD deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_369920 Label(s): Pontocerebellar hypoplasia type 9 - 'Pontocerebellar hypoplasia type 9' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 9' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 9' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_119860 Label(s): steroid 5 alpha-reductase 2 - 'steroid 5 alpha-reductase 2' SubClassOf 'candidate gene tested in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_227786 Label(s): OBSOLETE: Familial flecked retinopathy - 'OBSOLETE: Familial flecked retinopathy' SubClassOf 'referred to' some 'OBSOLETE: Inherited retinal disorder' + 'OBSOLETE: Familial flecked retinopathy' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_497188 Label(s): Diffuse intrinsic pontine glioma - 'Diffuse intrinsic pontine glioma' SubClassOf 'Disease' - 'Diffuse intrinsic pontine glioma' SubClassOf 'Disorder' - 'Diffuse intrinsic pontine glioma' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Diffuse intrinsic pontine glioma' SubClassOf 'moved to' some http://www.orpha.net/ORDO/Orphanet_723358 + 'Diffuse intrinsic pontine glioma' SubClassOf 'Deprecated disorder' Class: http://www.orpha.net/ORDO/Orphanet_309025 Label(s): Mevalonate kinase deficiency + 'Mevalonate kinase deficiency' SubClassOf 'part_of' some 'Rare inborn error of metabolism with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_124040 Label(s): orthodenticle homeobox 2 + 'orthodenticle homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Leber congenital amaurosis' + 'orthodenticle homeobox 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Severe early-childhood-onset retinal dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_160020 Label(s): ALK receptor tyrosine kinase + 'ALK receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma ALK-altered' Class: http://www.orpha.net/ORDO/Orphanet_124029 Label(s): osteoclastogenesis associated transmembrane protein 1 - 'osteoclastogenesis associated transmembrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile osteopetrosis with neuroaxonal dysplasia' + 'osteoclastogenesis associated transmembrane protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive malignant osteopetrosis' Class: http://www.orpha.net/ORDO/Orphanet_211247 Label(s): Rare capillary malformation - 'Rare capillary malformation' SubClassOf 'Rare vascular anomaly' + 'Rare capillary malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_723256 Class: http://www.orpha.net/ORDO/Orphanet_139189 Label(s): partner and localizer of BRCA2 - 'partner and localizer of BRCA2' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_294689 Label(s): semaphorin 3A - 'semaphorin 3A' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'semaphorin 3A' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_440706 Label(s): Ribose-5-P isomerase deficiency + 'Ribose-5-P isomerase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_438159 Label(s): STAT3-related early-onset multisystem autoimmune disease + 'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_297634 Label(s): macrophage scavenger receptor 1 - 'macrophage scavenger receptor 1' SubClassOf 'has_chromosomal location' value "8p22" - 'macrophage scavenger receptor 1' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'macrophage scavenger receptor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_139417 Label(s): Acute transverse myelitis + 'Acute transverse myelitis' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_519327 Label(s): OBSOLETE: Syndromic vitreoretinopathy + 'OBSOLETE: Syndromic vitreoretinopathy' SubClassOf 'referred to' some 'Vitreoretinopathy' Class: http://www.orpha.net/ORDO/Orphanet_123834 Label(s): NLR family pyrin domain containing 7 + 'NLR family pyrin domain containing 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_99141 Label(s): Lymphedema-posterior choanal atresia syndrome - 'Lymphedema-posterior choanal atresia syndrome' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' Class: http://www.orpha.net/ORDO/Orphanet_71505 Label(s): Cancer-associated retinopathy - 'Cancer-associated retinopathy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Cancer-associated retinopathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 Class: http://www.orpha.net/ORDO/Orphanet_251061 Label(s): 7q31 microdeletion syndrome + '7q31 microdeletion syndrome' SubClassOf 'part_of' some 'Specific language disorder' Class: http://www.orpha.net/ORDO/Orphanet_693549 Label(s): Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729538 + 'Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730699 Class: http://www.orpha.net/ORDO/Orphanet_325976 Label(s): sodium voltage-gated channel alpha subunit 10 - 'sodium voltage-gated channel alpha subunit 10' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_211277 Label(s): Complex vascular malformation with associated anomalies - 'Complex vascular malformation with associated anomalies' SubClassOf 'Rare vascular anomaly' + 'Complex vascular malformation with associated anomalies' SubClassOf 'Rare combined vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_3469 Label(s): XK aprosencephaly syndrome - 'XK aprosencephaly syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'XK aprosencephaly syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_98922 Label(s): Blake pouch cyst - 'Blake pouch cyst' SubClassOf 'part_of' some 'Posterior fossa malformation' + 'Blake pouch cyst' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729563 Class: http://www.orpha.net/ORDO/Orphanet_90652 Label(s): Otopalatodigital syndrome type 2 + 'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_90650 Label(s): Otopalatodigital syndrome type 1 + 'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_293955 Label(s): Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_3412 Label(s): VACTERL with hydrocephalus + 'VACTERL with hydrocephalus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729538 + 'VACTERL with hydrocephalus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730699 Class: http://www.orpha.net/ORDO/Orphanet_199348 Label(s): Thiamine-responsive encephalopathy + 'Thiamine-responsive encephalopathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_199340 Label(s): BAG3-related myofibrillar myopathy + 'BAG3-related myofibrillar myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_369861 Label(s): Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome + 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_52368 Label(s): Mohr-Tranebjaerg syndrome + 'Mohr-Tranebjaerg syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_121152 Label(s): docking protein 7 - 'docking protein 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Postsynaptic congenital myasthenic syndrome' + 'docking protein 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome due to defects in endplate development and maintenance' Class: http://www.orpha.net/ORDO/Orphanet_369837 Label(s): Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + 'Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_397802 Label(s): T+ B+ severe combined immunodeficiency - 'T+ B+ severe combined immunodeficiency' SubClassOf 'Group of disorders' - 'T+ B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' + 'T+ B+ severe combined immunodeficiency' SubClassOf 'Obsolete group of disorder' + 'T+ B+ severe combined immunodeficiency' SubClassOf 'referred to' some 'Severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_182061 Label(s): Cerebellar malformation - 'Cerebellar malformation' SubClassOf 'Posterior fossa malformation' + 'Cerebellar malformation' SubClassOf http://www.orpha.net/ORDO/Orphanet_729554 Class: http://www.orpha.net/ORDO/Orphanet_718079 Label(s): Combined immunodeficiency with normal B cells and normal immunoglubulins - 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Disorder' - 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Disease' + 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency with normal B cells and normal immunoglubulins' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_119754 Label(s): sphingomyelin phosphodiesterase 1 + 'sphingomyelin phosphodiesterase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Chronic neurovisceral acid sphingomyelinase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_609991 Label(s): 4-hydroxyphenylpyruvate dioxygenase like - '4-hydroxyphenylpyruvate dioxygenase like' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_718053 Label(s): Combined immunodeficiency with low CD4 and normal CD8 - 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Disorder' - 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Disease' + 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency with low CD4 and normal CD8' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_718047 Label(s): Combined immunodeficiency due to polymerase delta deficiency + 'Combined immunodeficiency due to polymerase delta deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_140874 Label(s): Joubert syndrome and related disorders - 'Joubert syndrome and related disorders' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' - 'Joubert syndrome and related disorders' SubClassOf 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' - 'Joubert syndrome and related disorders' SubClassOf 'Group of disorders' - 'Joubert syndrome and related disorders' SubClassOf 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Joubert syndrome and related disorders' SubClassOf 'part_of' some 'Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Joubert syndrome and related disorders' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome and related disorders' SubClassOf 'part_of' some 'Autosomal recessive congenital cerebellar ataxia' + 'Joubert syndrome and related disorders' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Joubert syndrome and related disorders' SubClassOf 'part_of' some 'Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature' + 'Joubert syndrome and related disorders' SubClassOf 'Disorder' + 'Joubert syndrome and related disorders' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_718037 Label(s): Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency + 'Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency' SubClassOf 'part_of' some 'Microcephalic primordial dwarfism' Class: http://www.orpha.net/ORDO/Orphanet_239943 Label(s): TBC1 domain family member 24 - 'TBC1 domain family member 24' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Familial infantile myoclonic epilepsy' + 'TBC1 domain family member 24' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Myoclonic epilepsy of infancy' Class: http://www.orpha.net/ORDO/Orphanet_717884 Label(s): Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome + 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_718017 Label(s): Combined immunodeficiency due to COPG1 deficiency + 'Combined immunodeficiency due to COPG1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal Ig and poor specific antibody response' Class: http://www.orpha.net/ORDO/Orphanet_2460 Label(s): Van den Ende-Gupta syndrome + 'Van den Ende-Gupta syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_2461 Label(s): Marden-Walker syndrome + 'Marden-Walker syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_717854 Label(s): Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome + 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_717846 Label(s): Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'part_of' some 'Hypopigmentation of the skin' + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_717841 Label(s): Global developmental delay-facial dysmorphism-atrial septal defect syndrome + 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' + 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_294060 Label(s): Multiple pterygium syndrome + 'Multiple pterygium syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_723416 Class: http://www.orpha.net/ORDO/Orphanet_717830 Label(s): 2p14p15 microdeletion syndrome + '2p14p15 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 2 syndrome' + '2p14p15 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '2p14p15 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_717823 Label(s): Global developmental delay-recurrent infections-facial dysmorphism syndrome + 'Global developmental delay-recurrent infections-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-recurrent infections-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_717812 Label(s): 12q24.31 microdeletion syndrome + '12q24.31 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '12q24.31 microdeletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '12q24.31 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 12 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_99014 Label(s): X-linked Charcot-Marie-Tooth disease type 5 + 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_139455 Label(s): Autosomal recessive bestrophinopathy - 'Autosomal recessive bestrophinopathy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_3388 Label(s): Neural tube defect - 'Neural tube defect' SubClassOf 'Genetic non-syndromic central nervous system malformation' - 'Neural tube defect' SubClassOf 'Non-syndromic central nervous system malformation' + 'Neural tube defect' SubClassOf 'Central nervous system malformation' + 'Neural tube defect' SubClassOf 'Genetic central nervous system malformation' Class: http://www.orpha.net/ORDO/Orphanet_714734 Label(s): Sinus pericranii - 'Sinus pericranii' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'Sinus pericranii' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723261 Class: http://www.orpha.net/ORDO/Orphanet_714737 Label(s): Diffuse capillary malformation with overgrowth + 'Diffuse capillary malformation with overgrowth' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'Diffuse capillary malformation with overgrowth' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723264 + 'Diffuse capillary malformation with overgrowth' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 Class: http://www.orpha.net/ORDO/Orphanet_717598 Label(s): Lymphatic-venous malformation - 'Lymphatic-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Lymphatic-venous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723518 Class: http://www.orpha.net/ORDO/Orphanet_699134 Label(s): bromodomain and PHD finger containing 1 - 'bromodomain and PHD finger containing 1' SubClassOf 'role in the phenotype of' some '3p25.3 microdeletion syndrome' + 'bromodomain and PHD finger containing 1' SubClassOf 'role in the phenotype of' some 'Distal deletion 3p syndrome' Class: http://www.orpha.net/ORDO/Orphanet_292052 Label(s): homeobox B13 - 'homeobox B13' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'homeobox B13' SubClassOf 'gene with protein product' - 'homeobox B13' SubClassOf 'has_chromosomal location' value "17q21.32" Class: http://www.orpha.net/ORDO/Orphanet_98819 Label(s): Familial temporal lobe epilepsy - 'Familial temporal lobe epilepsy' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Familial temporal lobe epilepsy' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_98816 Label(s): Childhood occipital visual epilepsy - 'Childhood occipital visual epilepsy' SubClassOf 'part_of' some 'Self-limited childhood occipital epilepsy' - 'Childhood occipital visual epilepsy' SubClassOf 'Subtype of a disorder' + 'Childhood occipital visual epilepsy' SubClassOf 'Disease' + 'Childhood occipital visual epilepsy' SubClassOf 'Disorder' + 'Childhood occipital visual epilepsy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726812 Class: http://www.orpha.net/ORDO/Orphanet_98815 Label(s): Self-limited epilepsy with autonomic seizures - 'Self-limited epilepsy with autonomic seizures' SubClassOf 'Subtype of a disorder' - 'Self-limited epilepsy with autonomic seizures' SubClassOf 'part_of' some 'Self-limited childhood occipital epilepsy' + 'Self-limited epilepsy with autonomic seizures' SubClassOf 'Disease' + 'Self-limited epilepsy with autonomic seizures' SubClassOf 'Disorder' + 'Self-limited epilepsy with autonomic seizures' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_726812 Class: http://www.orpha.net/ORDO/Orphanet_98813 Label(s): Hypohidrotic ectodermal dysplasia with immunodeficiency + 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_275517 Label(s): Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency + 'Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_3322 Label(s): Hoyeraal-Hreidarsson syndrome + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' + 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_658951 Label(s): Early-onset immune dysregulation due to DOCK11 complete deficiency - 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' + 'Early-onset immune dysregulation due to DOCK11 complete deficiency' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_698914 Label(s): Platelet-activating anti-platelet factor 4 disorder - 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'Rare thrombotic disorder due to an acquired coagulation factors defect' - 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'Systemic autoimmune disease' + 'Platelet-activating anti-platelet factor 4 disorder' SubClassOf 'Rare thrombotic disorder due to an acquired platelet anomaly' Class: http://www.orpha.net/ORDO/Orphanet_160018 Label(s): sodium voltage-gated channel beta subunit 4 - 'sodium voltage-gated channel beta subunit 4' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_121053 Label(s): desmin + 'desmin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_719921 Class: http://www.orpha.net/ORDO/Orphanet_316333 Label(s): calcium and integrin binding family member 2 - 'calcium and integrin binding family member 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Usher syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_1194 Label(s): TMEM70-related mitochondrial encephalo-cardio-myopathy + 'TMEM70-related mitochondrial encephalo-cardio-myopathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_541618 Label(s): dynein axonemal heavy chain 9 - 'dynein axonemal heavy chain 9' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_79259 Label(s): Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib + 'Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib' SubClassOf 'part_of' some 'Rare inborn error of metabolism with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_597887 Label(s): ALPI-related inflammatory bowel disease - 'ALPI-related inflammatory bowel disease' SubClassOf 'part_of' some 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_157949 Label(s): Combined immunodeficiency with granulomatosis + 'Combined immunodeficiency with granulomatosis' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_708129 Label(s): Autosomal recessive ACTN2-related distal myopathy + 'Autosomal recessive ACTN2-related distal myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_645807 Label(s): Primary tuberculous lymphadenitis - 'Primary tuberculous lymphadenitis' SubClassOf 'part_of' some 'Tuberculosis' - 'Primary tuberculous lymphadenitis' SubClassOf 'Disease' - 'Primary tuberculous lymphadenitis' SubClassOf 'Disorder' + 'Primary tuberculous lymphadenitis' SubClassOf 'Obsolete disorder' + 'Primary tuberculous lymphadenitis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_120878 Label(s): cytotoxic T-lymphocyte associated protein 4 - 'cytotoxic T-lymphocyte associated protein 4' SubClassOf 'major susceptibility factor in' some 'Adult-onset myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_645814 Label(s): Primary pulmonary tuberculosis - 'Primary pulmonary tuberculosis' SubClassOf 'Disease' - 'Primary pulmonary tuberculosis' SubClassOf 'Disorder' + 'Primary pulmonary tuberculosis' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_239896 Label(s): paraoxonase 3 - 'paraoxonase 3' SubClassOf 'has_chromosomal location' value "7q21.3" - 'paraoxonase 3' SubClassOf 'gene with protein product' - 'paraoxonase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_239894 Label(s): paraoxonase 2 - 'paraoxonase 2' SubClassOf 'has_chromosomal location' value "7q21.3" - 'paraoxonase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'paraoxonase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_239891 Label(s): paraoxonase 1 - 'paraoxonase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' - 'paraoxonase 1' SubClassOf 'gene with protein product' - 'paraoxonase 1' SubClassOf 'has_chromosomal location' value "7q21.3" Class: http://www.orpha.net/ORDO/Orphanet_611247 Label(s): Pontocerebellar hypoplasia type 11 - 'Pontocerebellar hypoplasia type 11' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 11' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 11' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_611256 Label(s): Pontocerebellar hypoplasia type 12 - 'Pontocerebellar hypoplasia type 12' SubClassOf 'Malformation syndrome' - 'Pontocerebellar hypoplasia type 12' SubClassOf 'Disorder' + 'Pontocerebellar hypoplasia type 12' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_611237 Label(s): Parkinsonism with polyneuropathy + 'Parkinsonism with polyneuropathy' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_708166 Label(s): Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations' Class: http://www.orpha.net/ORDO/Orphanet_119422 Label(s): cholinergic receptor nicotinic delta subunit - 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Postsynaptic congenital myasthenic syndrome' - 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Postsynaptic congenital myasthenic syndrome' + 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Slow-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' + 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_719880 + 'cholinergic receptor nicotinic delta subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Fast-channel congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_611223 Label(s): EN1-related dorsoventral syndrome - 'EN1-related dorsoventral syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_708178 Label(s): Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome + 'Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_376593 Label(s): paired box 1 - 'paired box 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Otofaciocervical syndrome' + 'paired box 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_720357 Class: http://www.orpha.net/ORDO/Orphanet_303805 Label(s): cullin 3 - 'cullin 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'cullin 3' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717795 Label(s): Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome + 'Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123688 Label(s): nibrin - 'nibrin' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_123133 Label(s): monoamine oxidase A + 'monoamine oxidase A' SubClassOf 'role in the phenotype of' some http://www.orpha.net/ORDO/Orphanet_727719 Class: http://www.orpha.net/ORDO/Orphanet_29072 Label(s): Hereditary pheochromocytoma-paraganglioma + 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_109007 Label(s): Arthrogryposis syndrome - 'Arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_227535 Label(s): Hereditary breast cancer - 'Hereditary breast cancer' SubClassOf 'Disease' - 'Hereditary breast cancer' SubClassOf 'part_of' some 'Genetic gynecological tumor' - 'Hereditary breast cancer' SubClassOf 'part_of' some 'Rare malignant breast tumor' - 'Hereditary breast cancer' SubClassOf 'part_of' some 'Rare andrological tumor' - 'Hereditary breast cancer' SubClassOf 'Disorder' + 'Hereditary breast cancer' SubClassOf 'Non rare disorder' Class: http://www.orpha.net/ORDO/Orphanet_645874 Label(s): Primary genito-urinary tuberculosis - 'Primary genito-urinary tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' - 'Primary genito-urinary tuberculosis' SubClassOf 'Disorder' - 'Primary genito-urinary tuberculosis' SubClassOf 'Disease' - 'Primary genito-urinary tuberculosis' SubClassOf 'part_of' some 'Rare disorder with obstructive azoospermia' + 'Primary genito-urinary tuberculosis' SubClassOf 'Obsolete disorder' + 'Primary genito-urinary tuberculosis' SubClassOf 'referred to' some http://www.orpha.net/ORDO/Orphanet_730702 Class: http://www.orpha.net/ORDO/Orphanet_496790 Label(s): Ocular anomalies-axonal neuropathy-developmental delay syndrome + 'Ocular anomalies-axonal neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_376545 Label(s): interphotoreceptor matrix proteoglycan 1 - 'interphotoreceptor matrix proteoglycan 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Benign concentric annular macular dystrophy' Class: http://www.orpha.net/ORDO/Orphanet_404154 Label(s): karyopherin subunit alpha 7 + 'karyopherin subunit alpha 7' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_104012 Label(s): Rare inflammatory bowel disease + 'Rare inflammatory bowel disease' SubClassOf 'Genetic intestinal disease' Class: http://www.orpha.net/ORDO/Orphanet_141189 Label(s): Cerebrofacial arteriovenous metameric syndrome - 'Cerebrofacial arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_717646 Label(s): Congenital midnasal stenosis + 'Congenital midnasal stenosis' SubClassOf 'part_of' some 'Nose and cavum anomaly' Class: http://www.orpha.net/ORDO/Orphanet_45358 Label(s): Congenital fibrosis of extraocular muscles + 'Congenital fibrosis of extraocular muscles' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_246681 Label(s): neurotrophic receptor tyrosine kinase 3 + 'neurotrophic receptor tyrosine kinase 3' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma NTRK-altered' Class: http://www.orpha.net/ORDO/Orphanet_306498 Label(s): PTEN hamartoma tumor syndrome + 'PTEN hamartoma tumor syndrome' SubClassOf 'part_of' some 'Rare miscellaneous disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_138728 Label(s): major histocompatibility complex, class II, DQ alpha 1 - 'major histocompatibility complex, class II, DQ alpha 1' SubClassOf 'major susceptibility factor in' some 'Adult-onset myasthenia gravis' Class: http://www.orpha.net/ORDO/Orphanet_3253 Label(s): Cleft lip/palate-ectodermal dysplasia syndrome - 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_3250 Label(s): Proximal symphalangism - 'Proximal symphalangism' SubClassOf 'part_of' some 'Syndrome with synostosis or other joint formation defect' + 'Proximal symphalangism' SubClassOf 'part_of' some 'Non-syndromic joint formation defects' Class: http://www.orpha.net/ORDO/Orphanet_708203 Label(s): Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome + 'Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' + 'Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_90 Label(s): Argininemia + 'Argininemia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_119182 Label(s): calsequestrin 2 - 'calsequestrin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'calsequestrin 2' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730631 Class: http://www.orpha.net/ORDO/Orphanet_84 Label(s): Fanconi anemia + 'Fanconi anemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_73 Label(s): Gorham-Stout disease - 'Gorham-Stout disease' SubClassOf 'part_of' some 'Isolated rare lymphatic malformation' + 'Gorham-Stout disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_719950 Class: http://www.orpha.net/ORDO/Orphanet_93293 Label(s): Okihiro syndrome + 'Okihiro syndrome' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_3205 Label(s): Sturge-Weber syndrome - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Rare capillary malformation with associated anomalies' - 'Sturge-Weber syndrome' SubClassOf 'part_of' some 'Rare capillary malformation' + 'Sturge-Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723264 + 'Sturge-Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_68 Label(s): Amoebiasis due to free-living amoebae + 'Amoebiasis due to free-living amoebae' SubClassOf 'part_of' some 'Infectious disease of the nervous system' Class: http://www.orpha.net/ORDO/Orphanet_65 Label(s): Leber congenital amaurosis - 'Leber congenital amaurosis' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_53721 Label(s): Spinal arteriovenous metameric syndrome - 'Spinal arteriovenous metameric syndrome' SubClassOf 'part_of' some 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_504523 Label(s): Severe combined immunodeficiency due to LAT deficiency - 'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency' + 'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_720280 Class: http://www.orpha.net/ORDO/Orphanet_464318 Label(s): Verrucous hemangioma - 'Verrucous hemangioma' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Verrucous hemangioma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723518 Class: http://www.orpha.net/ORDO/Orphanet_53 Label(s): Albers-Schönberg osteopetrosis + 'Albers-Schönberg osteopetrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_468699 Label(s): SLC39A8-CDG + 'SLC39A8-CDG' SubClassOf 'part_of' some 'Congenital disorder of glycosylation with neurological involvement' + 'SLC39A8-CDG' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_46 Label(s): Adenylosuccinate lyase deficiency + 'Adenylosuccinate lyase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_36 Label(s): Acrocallosal syndrome - 'Acrocallosal syndrome' SubClassOf 'Malformation syndrome' - 'Acrocallosal syndrome' SubClassOf 'Disorder' + 'Acrocallosal syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_32 Label(s): Glutathione synthetase deficiency + 'Glutathione synthetase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_708208 Label(s): Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome + 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_28 Label(s): Vitamin B12-responsive methylmalonic acidemia + 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_26 Label(s): Methylmalonic acidemia with homocystinuria + 'Methylmalonic acidemia with homocystinuria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79137 Label(s): Generalized epilepsy-paroxysmal dyskinesia syndrome - 'Generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf 'part_of' some 'Familial partial epilepsy' + 'Generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf 'part_of' some 'Childhood-onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_715025 Label(s): Spinal fast-flow vascular malformation + 'Spinal fast-flow vascular malformation' SubClassOf 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_79154 Label(s): 2-aminoadipic 2-oxoadipic aciduria + '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_406882 Label(s): SET domain containing 5 - 'SET domain containing 5' SubClassOf 'role in the phenotype of' some '3p25.3 microdeletion syndrome' + 'SET domain containing 5' SubClassOf 'role in the phenotype of' some 'Distal deletion 3p syndrome' Class: http://www.orpha.net/ORDO/Orphanet_609784 Label(s): mediator complex subunit 27 - 'mediator complex subunit 27' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'mediator complex subunit 27' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726677 Class: http://www.orpha.net/ORDO/Orphanet_714829 Label(s): Immune checkpoint inhibitor-induced myositis + 'Immune checkpoint inhibitor-induced myositis' SubClassOf 'part_of' some 'Rare rheumatologic disease' + 'Immune checkpoint inhibitor-induced myositis' SubClassOf 'part_of' some 'Acquired skeletal muscle disease' Class: http://www.orpha.net/ORDO/Orphanet_26106 Label(s): Hereditary diffuse gastric cancer + 'Hereditary diffuse gastric cancer' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_302903 Label(s): NOP2/Sun RNA methyltransferase 2 - 'NOP2/Sun RNA methyltransferase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Dubowitz syndrome' Class: http://www.orpha.net/ORDO/Orphanet_304242 Label(s): triadin - 'triadin' SubClassOf 'disease-causing germline mutation(s) in' some 'Catecholaminergic polymorphic ventricular tachycardia' - 'triadin' SubClassOf 'disease-causing germline mutation(s) in' some 'Romano-Ward syndrome' + 'triadin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_730682 + 'triadin' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727163 Class: http://www.orpha.net/ORDO/Orphanet_123531 Label(s): myotubularin 1 + 'myotubularin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Symptomatic form of X-linked centronuclear myopathy in female carriers' Class: http://www.orpha.net/ORDO/Orphanet_717638 Label(s): Aquagenic urticaria + 'Aquagenic urticaria' SubClassOf 'part_of' some 'Rare urticaria' Class: http://www.orpha.net/ORDO/Orphanet_313838 Label(s): Coats plus syndrome + 'Coats plus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_314632 Label(s): CLN12 disease + 'CLN12 disease' SubClassOf 'part_of' some 'Progressive myoclonic epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_118532 Label(s): sodium channel epithelial 1 subunit alpha - 'sodium channel epithelial 1 subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium channel epithelial 1 subunit alpha' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_484336 Label(s): multiple inositol-polyphosphate phosphatase 1 - 'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 7' + 'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_728514 Class: http://www.orpha.net/ORDO/Orphanet_401973 Label(s): MEND syndrome + 'MEND syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_717619 Label(s): Capillary-lymphatic-venous malformation - 'Capillary-lymphatic-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-lymphatic-venous malformation' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Capillary-lymphatic-venous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723518 Class: http://www.orpha.net/ORDO/Orphanet_708171 Label(s): Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_717611 Label(s): Capillary-venous malformation - 'Capillary-venous malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-venous malformation' SubClassOf 'part_of' some 'Genetic vascular anomaly' + 'Capillary-venous malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723518 Class: http://www.orpha.net/ORDO/Orphanet_717605 Label(s): Capillary-lymphatic malformation - 'Capillary-lymphatic malformation' SubClassOf 'part_of' some 'Rare combined vascular malformation' + 'Capillary-lymphatic malformation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723518 Class: http://www.orpha.net/ORDO/Orphanet_160008 Label(s): A-kinase anchoring protein 9 - 'A-kinase anchoring protein 9' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_401959 Label(s): Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730406 + 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729566 Class: http://www.orpha.net/ORDO/Orphanet_98665 Label(s): OBSOLETE: Colobomatous and areolar dystrophy - 'OBSOLETE: Colobomatous and areolar dystrophy' SubClassOf 'referred to' some 'OBSOLETE: Inherited retinal disorder' + 'OBSOLETE: Colobomatous and areolar dystrophy' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98662 Label(s): OBSOLETE: Unclassified familial retinal dystrophy - 'OBSOLETE: Unclassified familial retinal dystrophy' SubClassOf 'referred to' some 'OBSOLETE: Inherited retinal disorder' + 'OBSOLETE: Unclassified familial retinal dystrophy' SubClassOf 'referred to' some 'Rare genetic retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_98661 Label(s): OBSOLETE: Syndromic rod-cone dystrophy + 'OBSOLETE: Syndromic rod-cone dystrophy' SubClassOf 'referred to' some 'Rare retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_401948 Label(s): Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_69088 Label(s): Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome + 'Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_420573 Label(s): Severe combined immunodeficiency due to CTPS1 deficiency - 'Severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'part_of' some 'T+ B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_717784 Label(s): Partial trisomy 12q syndrome + 'Partial trisomy 12q syndrome' SubClassOf 'part_of' some 'Partial autosomal duplication/triplication syndrome' + 'Partial trisomy 12q syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Partial trisomy 12q syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_708133 Label(s): Autosomal dominant ACTN2-related distal myopathy + 'Autosomal dominant ACTN2-related distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'Autosomal dominant ACTN2-related distal myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_1248 Label(s): Maxillonasal dysplasia + 'Maxillonasal dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_708126 Label(s): DNAJB6-related distal myopathy + 'DNAJB6-related distal myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' + 'DNAJB6-related distal myopathy' SubClassOf 'part_of' some 'Myofibrillar myopathy' Class: http://www.orpha.net/ORDO/Orphanet_708123 Label(s): Autosomal dominant distal nebulin myopathy + 'Autosomal dominant distal nebulin myopathy' SubClassOf 'part_of' some 'Autosomal dominant distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_707983 Label(s): Early-onset autosomal recessive TTN-related distal myopathy + 'Early-onset autosomal recessive TTN-related distal myopathy' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' Class: http://www.orpha.net/ORDO/Orphanet_3124 Label(s): Saccharopinuria + 'Saccharopinuria' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_707937 Label(s): Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome + 'Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome' SubClassOf 'part_of' some 'Rare hereditary disease with peripheral neuropathy' + 'Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis' Class: http://www.orpha.net/ORDO/Orphanet_2971 Label(s): Peroxisomal acyl-CoA oxidase deficiency + 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_619363 Label(s): NOCARH syndrome + 'NOCARH syndrome' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_360224 Label(s): G protein subunit alpha 11 - 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some 'Uveal melanoma' + 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723195 + 'G protein subunit alpha 11' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_723203 Class: http://www.orpha.net/ORDO/Orphanet_2952 Label(s): Adducted thumbs-arthrogryposis syndrome, Christian type + 'Adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_263410 Label(s): Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + 'Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_90308 Label(s): Capillary-lymphatic-venous malformation with segmental distribution - 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723261 + 'Capillary-lymphatic-venous malformation with segmental distribution' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728584 Class: http://www.orpha.net/ORDO/Orphanet_90307 Label(s): Parkes Weber syndrome - 'Parkes Weber syndrome' SubClassOf 'part_of' some 'Fast-flow vascular malformation' + 'Parkes Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_719955 + 'Parkes Weber syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723427 Class: http://www.orpha.net/ORDO/Orphanet_166063 Label(s): Pontocerebellar hypoplasia type 4 - 'Pontocerebellar hypoplasia type 4' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 4' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 4' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_370396 Label(s): Small cell carcinoma of the ovary + 'Small cell carcinoma of the ovary' SubClassOf 'part_of' some 'Inherited cancer-predisposing syndrome' Class: http://www.orpha.net/ORDO/Orphanet_357237 Label(s): Combined immunodeficiency due to CARD11 deficiency + 'Combined immunodeficiency due to CARD11 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_166073 Label(s): Pontocerebellar hypoplasia type 6 - 'Pontocerebellar hypoplasia type 6' SubClassOf 'Disorder' - 'Pontocerebellar hypoplasia type 6' SubClassOf 'Malformation syndrome' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Pontocerebellar hypoplasia type 6' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_79490 Label(s): Microcystic lymphatic malformation - 'Microcystic lymphatic malformation' SubClassOf 'Malformation syndrome' - 'Microcystic lymphatic malformation' SubClassOf 'Disorder' + 'Microcystic lymphatic malformation' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_159219 Label(s): spectrin repeat containing nuclear envelope protein 1 + 'spectrin repeat containing nuclear envelope protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_424027 Label(s): Progressive myoclonic epilepsy type 8 + 'Progressive myoclonic epilepsy type 8' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79489 Label(s): Macrocystic lymphatic malformation - 'Macrocystic lymphatic malformation' SubClassOf 'Disorder' - 'Macrocystic lymphatic malformation' SubClassOf 'Malformation syndrome' + 'Macrocystic lymphatic malformation' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_397964 Label(s): Combined immunodeficiency due to MALT1 deficiency + 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_715923 Label(s): Intraosseous venous malformation + 'Intraosseous venous malformation' SubClassOf 'part_of' some 'Congenital vascular bone syndrome' Class: http://www.orpha.net/ORDO/Orphanet_411543 Label(s): Severe phosphoribosylpyrophosphate synthetase superactivity + 'Severe phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_79445 Label(s): Pseudopseudohypoparathyroidism - 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' + 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' + 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Pseudopseudohypoparathyroidism' SubClassOf 'part_of' some 'Syndromic obesity' Class: http://www.orpha.net/ORDO/Orphanet_79444 Label(s): Pseudohypoparathyroidism type 1C - 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some 'Syndromic obesity' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' + 'Pseudohypoparathyroidism type 1C' SubClassOf 'part_of' some 'Acromelic dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_79443 Label(s): Pseudohypoparathyroidism type 1A - 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some 'Pseudohypoparathyroidism with Albright hereditary osteodystrophy' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some 'Syndromic obesity' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some 'Acromelic dysplasia' + 'Pseudohypoparathyroidism type 1A' SubClassOf 'part_of' some 'Pseudohypoparathyroidism' Class: http://www.orpha.net/ORDO/Orphanet_178389 Label(s): Osteopetrosis-hypogammaglobulinemia syndrome + 'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_573010 Label(s): upstream transcription factor family member 3 - 'upstream transcription factor family member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' - 'upstream transcription factor family member 3' SubClassOf 'gene with protein product' - 'upstream transcription factor family member 3' SubClassOf 'has_chromosomal location' value "3q13.2" Class: http://www.orpha.net/ORDO/Orphanet_119425 Label(s): cholinergic receptor nicotinic epsilon subunit - 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Postsynaptic congenital myasthenic syndrome' - 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Postsynaptic congenital myasthenic syndrome' + 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' + 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Slow-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance' + 'cholinergic receptor nicotinic epsilon subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Fast-channel congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_717593 Label(s): Disseminated intravascular coagulation associated with a vascular anomaly + 'Disseminated intravascular coagulation associated with a vascular anomaly' SubClassOf 'part_of' some 'Rare coagulation disorder' Class: http://www.orpha.net/ORDO/Orphanet_119419 Label(s): cholinergic receptor nicotinic beta 1 subunit - 'cholinergic receptor nicotinic beta 1 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Postsynaptic congenital myasthenic syndrome' - 'cholinergic receptor nicotinic beta 1 subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Postsynaptic congenital myasthenic syndrome' + 'cholinergic receptor nicotinic beta 1 subunit' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Slow-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic beta 1 subunit' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Fast-channel congenital myasthenic syndrome' + 'cholinergic receptor nicotinic beta 1 subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with primary acetylcholine receptor deficiency' Class: http://www.orpha.net/ORDO/Orphanet_120618 Label(s): Zic family zinc finger 4 - 'Zic family zinc finger 4' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' - 'Zic family zinc finger 4' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' + 'Zic family zinc finger 4' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation' Class: http://www.orpha.net/ORDO/Orphanet_120606 Label(s): Zic family zinc finger 1 - 'Zic family zinc finger 1' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation with hydrocephalus' - 'Zic family zinc finger 1' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation without hydrocephalus' + 'Zic family zinc finger 1' SubClassOf 'role in the phenotype of' some 'Isolated Dandy-Walker malformation' + 'Zic family zinc finger 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome' Class: http://www.orpha.net/ORDO/Orphanet_123465 Label(s): MPL proto-oncogene, thrombopoietin receptor - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital amegakaryocytic thrombocytopenia' - 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Hereditary isolated aplastic anemia' + 'MPL proto-oncogene, thrombopoietin receptor' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_726047 Class: http://www.orpha.net/ORDO/Orphanet_364055 Label(s): Severe early-childhood-onset retinal dystrophy - 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 Class: http://www.orpha.net/ORDO/Orphanet_717564 Label(s): Dural sinus malformation without arteriovenous shunt - 'Dural sinus malformation without arteriovenous shunt' SubClassOf 'part_of' some 'Slow-flow malformation, venous type' + 'Dural sinus malformation without arteriovenous shunt' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723432 Class: http://www.orpha.net/ORDO/Orphanet_297209 Label(s): RAD51 paralog D - 'RAD51 paralog D' SubClassOf 'biomarker tested in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_297206 Label(s): potassium inwardly rectifying channel subfamily J member 8 + 'potassium inwardly rectifying channel subfamily J member 8' SubClassOf 'major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_728619 Class: http://www.orpha.net/ORDO/Orphanet_519302 Label(s): OBSOLETE: Isolated macular dystrophy + 'OBSOLETE: Isolated macular dystrophy' SubClassOf 'referred to' some 'Rare macular disorder' Class: http://www.orpha.net/ORDO/Orphanet_3088 Label(s): Revesz syndrome + 'Revesz syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_708043 Label(s): Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples + 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' SubClassOf 'part_of' some 'Ectrodactyly with and without other manifestations' + 'Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' Class: http://www.orpha.net/ORDO/Orphanet_566175 Label(s): Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_69737 Label(s): Bosley-Salih-Alorainy syndrome + 'Bosley-Salih-Alorainy syndrome' SubClassOf 'part_of' some 'Cranial nerve and nuclear aplasia' Class: http://www.orpha.net/ORDO/Orphanet_708036 Label(s): Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth + 'Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth' SubClassOf 'part_of' some 'Rare disease with odontological manifestation' + 'Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' Class: http://www.orpha.net/ORDO/Orphanet_118315 Label(s): rhodopsin - 'rhodopsin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness' + 'rhodopsin' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital stationary night blindness, Riggs type' Class: http://www.orpha.net/ORDO/Orphanet_401820 Label(s): Autosomal recessive spastic paraplegia type 67 + 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_98523 Label(s): Non-syndromic pontocerebellar hypoplasia - 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Posterior fossa malformation' - 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Cerebral malformation with epilepsy' - 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Genetic posterior fossa malformation' - 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Group of disorders' + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Malformation syndrome' + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'part_of' some 'Cerebral malformation with epilepsy' + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728528 + 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_98519 Label(s): Posterior fossa malformation - 'Posterior fossa malformation' SubClassOf 'Group of disorders' - 'Posterior fossa malformation' SubClassOf 'Non-syndromic central nervous system malformation' + 'Posterior fossa malformation' SubClassOf 'referred to' some 'Central nervous system malformation' + 'Posterior fossa malformation' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_98518 Label(s): Cranial nerve and nuclear aplasia - 'Cranial nerve and nuclear aplasia' SubClassOf 'Non-syndromic central nervous system malformation' - 'Cranial nerve and nuclear aplasia' SubClassOf 'Genetic non-syndromic central nervous system malformation' + 'Cranial nerve and nuclear aplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_729554 + 'Cranial nerve and nuclear aplasia' SubClassOf http://www.orpha.net/ORDO/Orphanet_730382 Class: http://www.orpha.net/ORDO/Orphanet_98514 Label(s): Malformation of the cerebellar vermis - 'Malformation of the cerebellar vermis' SubClassOf 'Cerebellar malformation' + 'Malformation of the cerebellar vermis' SubClassOf http://www.orpha.net/ORDO/Orphanet_729527 Class: http://www.orpha.net/ORDO/Orphanet_119276 Label(s): cadherin 1 - 'cadherin 1' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' - 'cadherin 1' SubClassOf 'candidate gene tested in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_695807 Label(s): Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Immune dysregulation disease with immunodeficiency' - 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_1397 Label(s): Hydrocephaly-cerebellar agenesis syndrome - 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'part_of' some 'Global cerebellar malformation' - 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'part_of' some 'Genetic cerebellar malformation' + 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_718072 Label(s): Combined immunodeficiency with low CD8 and normal CD4 - 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Disease' - 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Disorder' + 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Group of disorders' + 'Combined immunodeficiency with low CD8 and normal CD4' SubClassOf 'Non-severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_2875 Label(s): Phakomatosis pigmentovascularis - 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some 'Rare capillary malformation' + 'Phakomatosis pigmentovascularis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723267 Class: http://www.orpha.net/ORDO/Orphanet_538931 Label(s): X-linked lymphoproliferative disease due to SAP deficiency + 'X-linked lymphoproliferative disease due to SAP deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_538934 Label(s): X-linked lymphoproliferative disease due to XIAP deficiency - 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf 'part_of' some 'Genetic intestinal disease' + 'X-linked lymphoproliferative disease due to XIAP deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_538963 Label(s): Combined immunodeficiency due to ITK deficiency - 'Combined immunodeficiency due to ITK deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to ITK deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low CD4 and normal CD8' Class: http://www.orpha.net/ORDO/Orphanet_619233 Label(s): Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + 'Hereditary persistence of fetal hemoglobin-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic hematologic disease' Class: http://www.orpha.net/ORDO/Orphanet_119394 Label(s): checkpoint kinase 2 - 'checkpoint kinase 2' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_715292 Label(s): Brain pial arteriovenous fistula - 'Brain pial arteriovenous fistula' SubClassOf 'Disease' - 'Brain pial arteriovenous fistula' SubClassOf 'part_of' some 'Intracranial fast-flow vascular malformation' - 'Brain pial arteriovenous fistula' SubClassOf 'Disorder' + 'Brain pial arteriovenous fistula' SubClassOf 'Obsolete disorder' + 'Brain pial arteriovenous fistula' SubClassOf 'referred to' some 'Fast-flow vascular malformation of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_411493 Label(s): Pontocerebellar hypoplasia type 10 - 'Pontocerebellar hypoplasia type 10' SubClassOf 'Malformation syndrome' - 'Pontocerebellar hypoplasia type 10' SubClassOf 'Disorder' + 'Pontocerebellar hypoplasia type 10' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_445555 Label(s): matrix metallopeptidase 21 - 'matrix metallopeptidase 21' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_2802 Label(s): X-linked sideroblastic anemia and spinocerebellar ataxia + 'X-linked sideroblastic anemia and spinocerebellar ataxia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_163937 Label(s): X-linked intellectual disability, Najm type - 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'X-linked intellectual disability, Najm type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728528 Class: http://www.orpha.net/ORDO/Orphanet_119363 Label(s): complement factor H - 'complement factor H' SubClassOf 'disease-causing germline mutation(s) in' some 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' + 'complement factor H' SubClassOf 'disease-causing germline mutation(s) in' some 'C3 glomerulonephritis' Class: http://www.orpha.net/ORDO/Orphanet_361157 Label(s): sodium voltage-gated channel beta subunit 2 - 'sodium voltage-gated channel beta subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Brugada syndrome' + 'sodium voltage-gated channel beta subunit 2' SubClassOf 'candidate gene tested in' some 'Brugada syndrome' Class: http://www.orpha.net/ORDO/Orphanet_714652 Label(s): PCDH19 clustering epilepsy + 'PCDH19 clustering epilepsy' SubClassOf 'part_of' some 'Neonatal-infantile onset epilepsy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_281884 Label(s): nodal growth differentiation factor - 'nodal growth differentiation factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Situs ambiguus' - 'nodal growth differentiation factor' SubClassOf 'candidate gene tested in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_658946 Label(s): Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency + 'Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency' SubClassOf 'part_of' some 'OBSOLETE:Immune dysregulation with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_67048 Label(s): 3-methylglutaconic aciduria type 4 + '3-methylglutaconic aciduria type 4' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_67047 Label(s): 3-methylglutaconic aciduria type 3 + '3-methylglutaconic aciduria type 3' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_67046 Label(s): 3-methylglutaconic aciduria type 1 + '3-methylglutaconic aciduria type 1' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_67042 Label(s): Late-onset retinal degeneration - 'Late-onset retinal degeneration' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_120521 Label(s): nuclear receptor binding SET domain protein 2 + 'nuclear receptor binding SET domain protein 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Rauch-Steindl syndrome' Class: http://www.orpha.net/ORDO/Orphanet_647804 Label(s): Combined immunodeficiency due to FCHO1 deficiency - 'Combined immunodeficiency due to FCHO1 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to FCHO1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal B cells and normal immunoglubulins' Class: http://www.orpha.net/ORDO/Orphanet_119306 Label(s): cyclin dependent kinase inhibitor 2A + 'cyclin dependent kinase inhibitor 2A' SubClassOf 'biomarker tested in' some 'High-grade astrocytoma with piloid features' Class: http://www.orpha.net/ORDO/Orphanet_715721 Label(s): High-grade astrocytoma with piloid features - 'High-grade astrocytoma with piloid features' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'High-grade astrocytoma with piloid features' SubClassOf 'part_of' some 'Circumscribed astrocytic glioma' Class: http://www.orpha.net/ORDO/Orphanet_279904 Label(s): OBSOLETE: Primary intraocular lymphoma + 'OBSOLETE: Primary intraocular lymphoma' SubClassOf 'referred to' some 'Primary vitreoretinal large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_470582 Label(s): laminin subunit alpha 5 + 'laminin subunit alpha 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_69723 Label(s): Tyrosinemia type 3 + 'Tyrosinemia type 3' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_118344 Label(s): ribonuclease L - 'ribonuclease L' SubClassOf 'has_chromosomal location' value "1q25.3" - 'ribonuclease L' SubClassOf 'gene with protein product' - 'ribonuclease L' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_309147 Label(s): Hyper-beta-alaninemia + 'Hyper-beta-alaninemia' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_69665 Label(s): Intrahepatic cholestasis of pregnancy - 'Intrahepatic cholestasis of pregnancy' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'Intrahepatic cholestasis of pregnancy' SubClassOf 'part_of' some 'Rare parenchymal liver disease' Class: http://www.orpha.net/ORDO/Orphanet_401757 Label(s): Coenzyme A synthase + 'Coenzyme A synthase' SubClassOf 'disease-causing germline mutation(s) in' some 'Pontocerebellar hypoplasia type 12' Class: http://www.orpha.net/ORDO/Orphanet_138457 Label(s): telomerase RNA component + 'telomerase RNA component' SubClassOf 'disease-causing germline mutation(s) in' some 'Hoyeraal-Hreidarsson syndrome' Class: http://www.orpha.net/ORDO/Orphanet_139557 Label(s): X-linked distal spinal muscular atrophy type 3 + 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_217124 Label(s): peptidylprolyl isomerase B + 'peptidylprolyl isomerase B' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant optic atrophy, classic form' Class: http://www.orpha.net/ORDO/Orphanet_247145 Label(s): isocitrate dehydrogenase (NADP(+)) 2 + 'isocitrate dehydrogenase (NADP(+)) 2' SubClassOf 'disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_726004 Class: http://www.orpha.net/ORDO/Orphanet_98428 Label(s): Secondary polycythemia - 'Secondary polycythemia' SubClassOf 'Group of disorders' - 'Secondary polycythemia' SubClassOf 'Genetic polycythemia' - 'Secondary polycythemia' SubClassOf 'Polycythemia' + 'Secondary polycythemia' SubClassOf 'referred to' some 'Polycythemia' + 'Secondary polycythemia' SubClassOf 'Obsolete group of disorder' Class: http://www.orpha.net/ORDO/Orphanet_697067 Label(s): Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome + 'Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_715302 Label(s): Spinal pial arteriovenous fistula - 'Spinal pial arteriovenous fistula' SubClassOf 'Disorder' - 'Spinal pial arteriovenous fistula' SubClassOf 'Disease' - 'Spinal pial arteriovenous fistula' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Spinal pial arteriovenous fistula' SubClassOf 'Obsolete disorder' + 'Spinal pial arteriovenous fistula' SubClassOf 'referred to' some 'Fast-flow vascular malformation of the central nervous system' Class: http://www.orpha.net/ORDO/Orphanet_101356 Label(s): OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome - 'OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome' SubClassOf 'referred to' some 'Syndrome with a central nervous system malformation as a major feature' + 'OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome' SubClassOf 'referred to' some 'Other syndrome with lissencephaly as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_445669 Label(s): MN1 proto-oncogene, transcriptional regulator + 'MN1 proto-oncogene, transcriptional regulator' SubClassOf 'part of a fusion gene in' some 'Astroblastoma' Class: http://www.orpha.net/ORDO/Orphanet_404553 Label(s): Deficiency of adenosine deaminase 2 + 'Deficiency of adenosine deaminase 2' SubClassOf 'part_of' some 'Rare systemic or rheumatologic diseases with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_620363 Label(s): Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + 'Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_2754 Label(s): Orofaciodigital syndrome type 6 - 'Orofaciodigital syndrome type 6' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' - 'Orofaciodigital syndrome type 6' SubClassOf 'Malformation syndrome' - 'Orofaciodigital syndrome type 6' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' - 'Orofaciodigital syndrome type 6' SubClassOf 'Disorder' + 'Orofaciodigital syndrome type 6' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_1393 Label(s): Cerebrocostomandibular syndrome + 'Cerebrocostomandibular syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations' + 'Cerebrocostomandibular syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728642 Class: http://www.orpha.net/ORDO/Orphanet_436159 Label(s): Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_79430 Label(s): Hermansky-Pudlak syndrome + 'Hermansky-Pudlak syndrome' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_244242 Label(s): HELLP syndrome + 'HELLP syndrome' SubClassOf 'part_of' some 'Rare hepatic disease' Class: http://www.orpha.net/ORDO/Orphanet_689021 Label(s): Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'part_of' some 'Autosomal recessive distal myopathy' + 'Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome' SubClassOf 'part_of' some 'Non-dystrophic myopathy' Class: http://www.orpha.net/ORDO/Orphanet_397959 Label(s): TCR-alpha-beta-positive T-cell deficiency - 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal B cells and normal immunoglubulins' Class: http://www.orpha.net/ORDO/Orphanet_79241 Label(s): Biotinidase deficiency + 'Biotinidase deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_294965 Label(s): Lethal congenital contracture syndrome + 'Lethal congenital contracture syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_723416 Class: http://www.orpha.net/ORDO/Orphanet_240663 Label(s): KLF transcription factor 1 + 'KLF transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_727394 Class: http://www.orpha.net/ORDO/Orphanet_79239 Label(s): Classic galactosemia - 'Classic galactosemia' SubClassOf 'part_of' some 'Rare metabolic liver disease' - 'Classic galactosemia' SubClassOf 'part_of' some 'Galactosemia' + 'Classic galactosemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_723094 Class: http://www.orpha.net/ORDO/Orphanet_397922 Label(s): Ferro-cerebro-cutaneous syndrome + 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'part_of' some 'Neurometabolic disease' Class: http://www.orpha.net/ORDO/Orphanet_696904 Label(s): Common variable immunodeficiency phenotype due to IRF2BP2 deficiency + 'Common variable immunodeficiency phenotype due to IRF2BP2 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_431149 Label(s): Combined immunodeficiency due to OX40 deficiency - 'Combined immunodeficiency due to OX40 deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency' + 'Combined immunodeficiency due to OX40 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with normal B cells and normal immunoglubulins' Class: http://www.orpha.net/ORDO/Orphanet_434238 Label(s): signal transducer and activator of transcription 2 + 'signal transducer and activator of transcription 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Pseudo-TORCH syndrome type 3' Class: http://www.orpha.net/ORDO/Orphanet_117820 Label(s): phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha - 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Cowden syndrome' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital infiltrating lipomatosis of the face' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Capillary-venous malformation' + 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'disease-causing somatic mutation(s) in' some 'Unifocal sporadic venous malformation' Class: http://www.orpha.net/ORDO/Orphanet_231154 Label(s): Combined immunodeficiency due to partial RAG1 deficiency + 'Combined immunodeficiency due to partial RAG1 deficiency' SubClassOf 'part_of' some 'Rare immune disease with inflammatory bowel disease' Class: http://www.orpha.net/ORDO/Orphanet_444681 Label(s): synaptotagmin 2 - 'synaptotagmin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Presynaptic congenital myasthenic syndromes' + 'synaptotagmin 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' + 'synaptotagmin 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_35612 Label(s): Nanophthalmos - 'Nanophthalmos' SubClassOf 'Disorder' - 'Nanophthalmos' SubClassOf 'part_of' some 'Syndromic genetic disorder with strabismus' - 'Nanophthalmos' SubClassOf 'part_of' some 'Genetic congenital malformation of the eye with glaucoma as a major feature' - 'Nanophthalmos' SubClassOf 'part_of' some 'Isolated microphthalmia-anophthalmia-coloboma' - 'Nanophthalmos' SubClassOf 'part_of' some 'Syndromic disorder with strabismus' - 'Nanophthalmos' SubClassOf 'Malformation syndrome' + 'Nanophthalmos' SubClassOf 'part_of' some 'Colobomatous microphthalmia' + 'Nanophthalmos' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_363670 Label(s): PPARG coactivator 1 alpha - 'PPARG coactivator 1 alpha' SubClassOf 'has_chromosomal location' value "4p15.2" - 'PPARG coactivator 1 alpha' SubClassOf 'gene with protein product' - 'PPARG coactivator 1 alpha' SubClassOf 'modifying germline mutation in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_717324 Label(s): Rare genetic isolated progressive generalized retinal disorder + 'Rare genetic isolated progressive generalized retinal disorder' SubClassOf 'Rare isolated progressive generalized retinal disorder' Class: http://www.orpha.net/ORDO/Orphanet_123201 Label(s): MET proto-oncogene, receptor tyrosine kinase + 'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'part of a fusion gene in' some 'Infant-type hemispheric glioma MET-altered' Class: http://www.orpha.net/ORDO/Orphanet_460650 Label(s): X-ray repair cross complementing 4 - 'X-ray repair cross complementing 4' SubClassOf 'candidate gene tested in' some 'LIG4 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_119359 Label(s): cryptic, EGF-CFC family member 1 - 'cryptic, EGF-CFC family member 1' SubClassOf 'candidate gene tested in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_401764 Label(s): Pancytopenia-developmental delay syndrome + 'Pancytopenia-developmental delay syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_728475 Class: http://www.orpha.net/ORDO/Orphanet_695631 Label(s): Primary vitreoretinal large B-cell lymphoma - 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some 'Rare isolated progressive generalized retinal disorder' + 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730376 + 'Primary vitreoretinal large B-cell lymphoma' SubClassOf 'part_of' some 'Diffuse large B-cell lymphoma' Class: http://www.orpha.net/ORDO/Orphanet_2703 Label(s): Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_730406 + 'Port-wine nevi-mega cisterna magna-hydrocephalus syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_729566 Class: http://www.orpha.net/ORDO/Orphanet_71211 Label(s): Neuromyelitis optica spectrum disorder - 'Neuromyelitis optica spectrum disorder' SubClassOf 'part_of' some 'Multiple sclerosis variant' + 'Neuromyelitis optica spectrum disorder' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_299649 Label(s): X-ray repair cross complementing 2 - 'X-ray repair cross complementing 2' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' ################ @Classes new to this version Class: http://www.orpha.net/ORDO/Orphanet_719955 Label(s): Multifocal fast-flow vascular malformation + 'Multifocal fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation' + 'Multifocal fast-flow vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_724148 Label(s): Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as a major feature' + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'Disorder' + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy' Class: http://www.orpha.net/ORDO/Orphanet_719939 Label(s): Central conducting lymphatic anomaly + 'Central conducting lymphatic anomaly' SubClassOf 'Disease' + 'Central conducting lymphatic anomaly' SubClassOf 'Disorder' + 'Central conducting lymphatic anomaly' SubClassOf 'part_of' some 'Complex lymphatic anomaly' Class: http://www.orpha.net/ORDO/Orphanet_719921 Label(s): Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction + 'Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction' SubClassOf 'Presynaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_727719 Label(s): Monoamine oxidase A and monoamine oxidase B deficiency + 'Monoamine oxidase A and monoamine oxidase B deficiency' SubClassOf 'part_of' some 'Disorder of neurotransmitter metabolism and transport' + 'Monoamine oxidase A and monoamine oxidase B deficiency' SubClassOf 'Disorder' + 'Monoamine oxidase A and monoamine oxidase B deficiency' SubClassOf 'part_of' some 'Neurometabolic disease' + 'Monoamine oxidase A and monoamine oxidase B deficiency' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Monoamine oxidase A and monoamine oxidase B deficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_726782 Label(s): Intellectual disability-myopathy-white matter abnormality syndrome + 'Intellectual disability-myopathy-white matter abnormality syndrome' SubClassOf 'Disease' + 'Intellectual disability-myopathy-white matter abnormality syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-myopathy-white matter abnormality syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Intellectual disability-myopathy-white matter abnormality syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_726722 Label(s): nuclear factor of activated T cells 1 + 'nuclear factor of activated T cells 1' SubClassOf 'gene with protein product' + 'nuclear factor of activated T cells 1' SubClassOf 'has_chromosomal location' value "18q23" + 'nuclear factor of activated T cells 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to NFATC1 deficiency' Class: http://www.orpha.net/ORDO/Orphanet_726716 Label(s): WD repeat domain 45B + 'WD repeat domain 45B' SubClassOf 'has_chromosomal location' value "17q25.3" + 'WD repeat domain 45B' SubClassOf 'gene with protein product' + 'WD repeat domain 45B' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726703 Label(s): Polydactyly-macrocephaly syndrome + 'Polydactyly-macrocephaly syndrome' SubClassOf 'Disorder' + 'Polydactyly-macrocephaly syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polydactyly-macrocephaly syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Polydactyly-macrocephaly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Polydactyly-macrocephaly syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726700 Label(s): Chitayat syndrome + 'Chitayat syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Chitayat syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' + 'Chitayat syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' + 'Chitayat syndrome' SubClassOf 'Disorder' + 'Chitayat syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_729566 Label(s): Syndrome with a posterior fossa cystic malformation as a major feature + 'Syndrome with a posterior fossa cystic malformation as a major feature' SubClassOf 'Posterior fossa cystic malformation' + 'Syndrome with a posterior fossa cystic malformation as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_729563 Label(s): Isolated posterior fossa cystic malformation + 'Isolated posterior fossa cystic malformation' SubClassOf 'Posterior fossa cystic malformation' + 'Isolated posterior fossa cystic malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_729557 Label(s): Posterior fossa cystic malformation + 'Posterior fossa cystic malformation' SubClassOf 'Midbrain-Hindbrain malformation' + 'Posterior fossa cystic malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_729554 Label(s): Midbrain-Hindbrain malformation + 'Midbrain-Hindbrain malformation' SubClassOf 'Central nervous system malformation' + 'Midbrain-Hindbrain malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730740 Label(s): Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form + 'Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'Subtype of a disorder' + 'Infantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'part_of' some 'TK2-related mitochondrial DNA maintenance defect, myopathic form' Class: http://www.orpha.net/ORDO/Orphanet_729538 Label(s): Syndromic rhombencephalosynapsis + 'Syndromic rhombencephalosynapsis' SubClassOf 'Group of disorders' + 'Syndromic rhombencephalosynapsis' SubClassOf 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_729527 Label(s): Isolated cerebellar malformation + 'Isolated cerebellar malformation' SubClassOf 'Group of disorders' + 'Isolated cerebellar malformation' SubClassOf 'Cerebellar malformation' Class: http://www.orpha.net/ORDO/Orphanet_729519 Label(s): Syndrome with a brainstem malformation as a major feature + 'Syndrome with a brainstem malformation as a major feature' SubClassOf 'Midbrain-Hindbrain malformation' + 'Syndrome with a brainstem malformation as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730707 Label(s): Genetic forebrain malformation + 'Genetic forebrain malformation' SubClassOf 'Genetic central nervous system malformation' + 'Genetic forebrain malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_719880 Label(s): Congenital myasthenic syndrome due to acetylcholine receptor clustering defect + 'Congenital myasthenic syndrome due to acetylcholine receptor clustering defect' SubClassOf 'Subtype of a disorder' + 'Congenital myasthenic syndrome due to acetylcholine receptor clustering defect' SubClassOf 'Postsynaptic congenital myasthenic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730421 Label(s): Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' SubClassOf 'Disease' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' SubClassOf 'part_of' some 'Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' SubClassOf 'part_of' some 'Rare genetic developmental defect during embryogenesis' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' SubClassOf 'part_of' some 'Rare developmental defect during embryogenesis' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_171038 Label(s): DDB1 and CUL4 associated factor 17 + 'DDB1 and CUL4 associated factor 17' SubClassOf 'disease-causing germline mutation(s) in' some 'Woodhouse-Sakati syndrome' + 'DDB1 and CUL4 associated factor 17' SubClassOf 'gene with protein product' + 'DDB1 and CUL4 associated factor 17' SubClassOf 'has_chromosomal location' value "2q31.1" Class: http://www.orpha.net/ORDO/Orphanet_726824 Label(s): Hepatorenocardiac degenerative fibrosis + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'part_of' some 'Ciliopathy' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'part_of' some 'Genetic parenchymatous liver disease' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'part_of' some 'Genetic cystic renal disease' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'Disease' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'part_of' some 'Syndrome associated with hypertrophic cardiomyopathy' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'part_of' some 'Rare parenchymal liver disease' + 'Hepatorenocardiac degenerative fibrosis' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_723875 Label(s): teashirt zinc finger homeobox 3 + 'teashirt zinc finger homeobox 3' SubClassOf 'disease-causing germline mutation(s) in' some 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' + 'teashirt zinc finger homeobox 3' SubClassOf 'has_chromosomal location' value "19q12" + 'teashirt zinc finger homeobox 3' SubClassOf 'gene with protein product' + 'teashirt zinc finger homeobox 3' SubClassOf 'role in the phenotype of' some '19q13.11 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730866 Label(s): Wisconsin syndrome + 'Wisconsin syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wisconsin syndrome' SubClassOf 'Disease' + 'Wisconsin syndrome' SubClassOf 'Disorder' + 'Wisconsin syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Wisconsin syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 3 syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726837 Label(s): Hematohidrosis + 'Hematohidrosis' SubClassOf 'part_of' some 'Sweat glands anomaly' + 'Hematohidrosis' SubClassOf 'Disease' + 'Hematohidrosis' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_726682 Label(s): H3 clustered histone 3 + 'H3 clustered histone 3' SubClassOf 'gene with protein product' + 'H3 clustered histone 3' SubClassOf 'disease-causing somatic mutation(s) in' some 'Diffuse midline glioma, H3 K27-altered' + 'H3 clustered histone 3' SubClassOf 'has_chromosomal location' value "6p22.2" Class: http://www.orpha.net/ORDO/Orphanet_726677 Label(s): Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'Disorder' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726667 Label(s): Houge-Janssens syndrome type 4 + 'Houge-Janssens syndrome type 4' SubClassOf 'part_of' some 'Houge-Janssens syndrome' + 'Houge-Janssens syndrome type 4' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_726659 Label(s): Houge-Janssens syndrome type 3 + 'Houge-Janssens syndrome type 3' SubClassOf 'Subtype of a disorder' + 'Houge-Janssens syndrome type 3' SubClassOf 'part_of' some 'Houge-Janssens syndrome' Class: http://www.orpha.net/ORDO/Orphanet_727899 Label(s): TUB like protein 3 + 'TUB like protein 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Hepatorenocardiac degenerative fibrosis' + 'TUB like protein 3' SubClassOf 'gene with protein product' + 'TUB like protein 3' SubClassOf 'has_chromosomal location' value "12p13.33" Class: http://www.orpha.net/ORDO/Orphanet_730696 Label(s): Genetic syndrome with a brainstem malformation as a major feature + 'Genetic syndrome with a brainstem malformation as a major feature' SubClassOf 'Genetic midbrain-hindbrain malformation' + 'Genetic syndrome with a brainstem malformation as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730682 Label(s): TRDN-related catecholaminergic polymorphic ventricular tachycardia + 'TRDN-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'TRDN-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730679 Label(s): Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause + 'Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause' SubClassOf 'part_of' some 'Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' + 'Isolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic cause' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730672 Label(s): Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder + 'Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'part_of' some 'Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' + 'Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'Disorder' + 'Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730657 Label(s): Calmodulin-related catecholaminergic polymorphic ventricular tachycardia + 'Calmodulin-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'Calmodulin-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730644 Label(s): TECRL-related catecholaminergic polymorphic ventricular tachycardia + 'TECRL-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Subtype of a disorder' + 'TECRL-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' Class: http://www.orpha.net/ORDO/Orphanet_730618 Label(s): RYR2-related catecholaminergic polymorphic ventricular tachycardia + 'RYR2-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Subtype of a disorder' + 'RYR2-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' Class: http://www.orpha.net/ORDO/Orphanet_719766 Label(s): Photic retinopathy + 'Photic retinopathy' SubClassOf 'Disease' + 'Photic retinopathy' SubClassOf 'part_of' some 'Rare isolated non-progressive predominantly macular disorder' + 'Photic retinopathy' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_727932 Label(s): Hypocholesterolemia due to PCSK9 deficiency + 'Hypocholesterolemia due to PCSK9 deficiency' SubClassOf 'Biological anomaly' + 'Hypocholesterolemia due to PCSK9 deficiency' SubClassOf 'Disorder' + 'Hypocholesterolemia due to PCSK9 deficiency' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' Class: http://www.orpha.net/ORDO/Orphanet_729761 Label(s): Sandestig-Stefanova syndrome + 'Sandestig-Stefanova syndrome' SubClassOf 'Disorder' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Syndromic cataract' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Structural developmental eye defect' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as a major feature' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Sandestig-Stefanova syndrome' SubClassOf 'Malformation syndrome' + 'Sandestig-Stefanova syndrome' SubClassOf 'part_of' some 'Syndromic genetic cataract' Class: http://www.orpha.net/ORDO/Orphanet_732482 Label(s): phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase + 'phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase' SubClassOf 'disease-causing germline mutation(s) in' some 'PAICS deficiency' + 'phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase' SubClassOf 'gene with protein product' + 'phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase' SubClassOf 'has_chromosomal location' value "4q12" Class: http://www.orpha.net/ORDO/Orphanet_726479 Label(s): Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency + 'Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency' SubClassOf 'Disorder' + 'Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency' SubClassOf 'part_of' some 'Genetic susceptibility to infections due to particular pathogens' + 'Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_735910 Label(s): cilia and flagella associated protein 20 + 'cilia and flagella associated protein 20' SubClassOf 'gene with protein product' + 'cilia and flagella associated protein 20' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'cilia and flagella associated protein 20' SubClassOf 'has_chromosomal location' value "16q21" Class: http://www.orpha.net/ORDO/Orphanet_735908 Label(s): nebulin related anchoring protein + 'nebulin related anchoring protein' SubClassOf 'gene with protein product' + 'nebulin related anchoring protein' SubClassOf 'has_chromosomal location' value "10q25.3" + 'nebulin related anchoring protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial isolated dilated cardiomyopathy' Class: http://www.orpha.net/ORDO/Orphanet_726452 Label(s): Combined immunodeficiency with early gray hairing + 'Combined immunodeficiency with early gray hairing' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins and normal B cells' + 'Combined immunodeficiency with early gray hairing' SubClassOf 'Disorder' + 'Combined immunodeficiency with early gray hairing' SubClassOf 'part_of' some 'Hypopigmentation of the skin' + 'Combined immunodeficiency with early gray hairing' SubClassOf 'Disease' + 'Combined immunodeficiency with early gray hairing' SubClassOf 'part_of' some 'Genetic hypopigmentation of the skin' Class: http://www.orpha.net/ORDO/Orphanet_730675 Label(s): Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin + 'Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin' SubClassOf 'Subtype of a disorder' + 'Isolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic origin' SubClassOf 'part_of' some 'Isolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_726442 Label(s): Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections + 'Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections' SubClassOf 'Disease' + 'Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections' SubClassOf 'Disorder' + 'Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections' SubClassOf 'part_of' some 'Combined immunodeficiency with low B cells and hypogammaglobulinemia' Class: http://www.orpha.net/ORDO/Orphanet_726644 Label(s): Houge-Janssens syndrome + 'Houge-Janssens syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Houge-Janssens syndrome' SubClassOf 'Malformation syndrome' + 'Houge-Janssens syndrome' SubClassOf 'Disorder' + 'Houge-Janssens syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_727149 Label(s): KCNH2-related isolated congenital long QT syndrome + 'KCNH2-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' + 'KCNH2-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_729224 Label(s): Epilepsy-mild cortical malformation-oligodendroglial hyperplasia + 'Epilepsy-mild cortical malformation-oligodendroglial hyperplasia' SubClassOf 'Disorder' + 'Epilepsy-mild cortical malformation-oligodendroglial hyperplasia' SubClassOf 'Disease' + 'Epilepsy-mild cortical malformation-oligodendroglial hyperplasia' SubClassOf 'part_of' some 'Cerebral cortical dysplasia' Class: http://www.orpha.net/ORDO/Orphanet_726675 Label(s): H3 clustered histone 2 + 'H3 clustered histone 2' SubClassOf 'gene with protein product' + 'H3 clustered histone 2' SubClassOf 'has_chromosomal location' value "6p22.2" + 'H3 clustered histone 2' SubClassOf 'disease-causing somatic mutation(s) in' some 'Diffuse midline glioma, H3 K27-altered' Class: http://www.orpha.net/ORDO/Orphanet_730406 Label(s): Genetic syndrome with a posterior fossa cystic malformation as a major feature + 'Genetic syndrome with a posterior fossa cystic malformation as a major feature' SubClassOf 'Genetic posterior fossa cystic malformation' + 'Genetic syndrome with a posterior fossa cystic malformation as a major feature' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730401 Label(s): Erythema induratum of Bazin + 'Erythema induratum of Bazin' SubClassOf 'Disorder' + 'Erythema induratum of Bazin' SubClassOf 'part_of' some 'Subcutaneous tissue disease' + 'Erythema induratum of Bazin' SubClassOf 'Disease' + 'Erythema induratum of Bazin' SubClassOf 'part_of' some 'Tuberculid' Class: http://www.orpha.net/ORDO/Orphanet_727178 Label(s): KCNE2-related isolated congenital long QT syndrome + 'KCNE2-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' + 'KCNE2-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_735874 Label(s): solute carrier family 10 member 5 + 'solute carrier family 10 member 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial hypercholanemia' + 'solute carrier family 10 member 5' SubClassOf 'gene with protein product' + 'solute carrier family 10 member 5' SubClassOf 'has_chromosomal location' value "8q21.13" Class: http://www.orpha.net/ORDO/Orphanet_735872 Label(s): death associated protein 3 + 'death associated protein 3' SubClassOf 'gene with protein product' + 'death associated protein 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Perrault syndrome type 1' + 'death associated protein 3' SubClassOf 'has_chromosomal location' value "1q22" Class: http://www.orpha.net/ORDO/Orphanet_735863 Label(s): RNA, U6 small nuclear 8 + 'RNA, U6 small nuclear 8' SubClassOf 'gene with protein product' + 'RNA, U6 small nuclear 8' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'RNA, U6 small nuclear 8' SubClassOf 'has_chromosomal location' value "14q12" Class: http://www.orpha.net/ORDO/Orphanet_735861 Label(s): RNA, U6 small nuclear 2 + 'RNA, U6 small nuclear 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'RNA, U6 small nuclear 2' SubClassOf 'has_chromosomal location' value "19p13.3" + 'RNA, U6 small nuclear 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_735857 Label(s): debranching RNA lariats 1 + 'debranching RNA lariats 1' SubClassOf 'gene with protein product' + 'debranching RNA lariats 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Trichothiodystrophy' + 'debranching RNA lariats 1' SubClassOf 'has_chromosomal location' value "3q22.3" Class: http://www.orpha.net/ORDO/Orphanet_730390 Label(s): Genetic posterior fossa cystic malformation + 'Genetic posterior fossa cystic malformation' SubClassOf 'Group of disorders' + 'Genetic posterior fossa cystic malformation' SubClassOf 'Genetic midbrain-hindbrain malformation' Class: http://www.orpha.net/ORDO/Orphanet_730385 Label(s): Lichen scrofulosorum + 'Lichen scrofulosorum' SubClassOf 'Disease' + 'Lichen scrofulosorum' SubClassOf 'Disorder' + 'Lichen scrofulosorum' SubClassOf 'part_of' some 'Tuberculid' Class: http://www.orpha.net/ORDO/Orphanet_730743 Label(s): Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form + 'Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'part_of' some 'TK2-related mitochondrial DNA maintenance defect, myopathic form' + 'Childhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730363 Label(s): Ethanol-producing endogenous fermentation syndrome + 'Ethanol-producing endogenous fermentation syndrome' SubClassOf 'Clinical syndrome' + 'Ethanol-producing endogenous fermentation syndrome' SubClassOf 'Disorder' + 'Ethanol-producing endogenous fermentation syndrome' SubClassOf 'part_of' some 'Rare disorder due to poisoning' Class: http://www.orpha.net/ORDO/Orphanet_722527 Label(s): tousled like kinase 2 + 'tousled like kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome' + 'tousled like kinase 2' SubClassOf 'has_chromosomal location' value "17q23.2" + 'tousled like kinase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_730332 Label(s): Charcot-Marie-Tooth disease type 1J + 'Charcot-Marie-Tooth disease type 1J' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease type 1' + 'Charcot-Marie-Tooth disease type 1J' SubClassOf 'Disease' + 'Charcot-Marie-Tooth disease type 1J' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_728902 Label(s): Craniotubular dysplasia, Ikegawa type + 'Craniotubular dysplasia, Ikegawa type' SubClassOf 'Disorder' + 'Craniotubular dysplasia, Ikegawa type' SubClassOf 'part_of' some 'Primary bone dysplasia with increased bone density' + 'Craniotubular dysplasia, Ikegawa type' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_720287 Label(s): T-B+NK- severe combined immunodeficiency + 'T-B+NK- severe combined immunodeficiency' SubClassOf 'Group of disorders' + 'T-B+NK- severe combined immunodeficiency' SubClassOf 'T-B+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_720321 Label(s): Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome + 'Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome' SubClassOf 'Disorder' + 'Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_723432 Label(s): Central nervous system venous vascular malformation + 'Central nervous system venous vascular malformation' SubClassOf 'Group of disorders' + 'Central nervous system venous vascular malformation' SubClassOf 'Slow-flow malformation, venous type' + 'Central nervous system venous vascular malformation' SubClassOf 'Neurovascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_723427 Label(s): Syndromic fast-flow vascular malformation + 'Syndromic fast-flow vascular malformation' SubClassOf 'Fast-flow vascular malformation' + 'Syndromic fast-flow vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723416 Label(s): Genetic arthrogryposis syndrome + 'Genetic arthrogryposis syndrome' SubClassOf 'Group of disorders' + 'Genetic arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_728432 Label(s): PLA2G6-related neurodegeneration, juvenile-onset + 'PLA2G6-related neurodegeneration, juvenile-onset' SubClassOf 'Disorder' + 'PLA2G6-related neurodegeneration, juvenile-onset' SubClassOf 'part_of' some 'PLA2G6-related neurodegeneration' + 'PLA2G6-related neurodegeneration, juvenile-onset' SubClassOf 'Disease' + 'PLA2G6-related neurodegeneration, juvenile-onset' SubClassOf 'part_of' some 'Autosomal recessive spastic ataxia' Class: http://www.orpha.net/ORDO/Orphanet_732471 Label(s): solute carrier family 12 member 1 + 'solute carrier family 12 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 12 member 1' SubClassOf 'has_chromosomal location' value "15q21.1" + 'solute carrier family 12 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Bartter syndrome type 1' Class: http://www.orpha.net/ORDO/Orphanet_730289 Label(s): Paraduodenal pancreatitis + 'Paraduodenal pancreatitis' SubClassOf 'part_of' some 'Rare pancreatic disease' + 'Paraduodenal pancreatitis' SubClassOf 'Disorder' + 'Paraduodenal pancreatitis' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730286 Label(s): Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome + 'Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome' SubClassOf 'Malformation syndrome' + 'Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730281 Label(s): Sclerosing epithelioid fibrosarcoma + 'Sclerosing epithelioid fibrosarcoma' SubClassOf 'Disorder' + 'Sclerosing epithelioid fibrosarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Sclerosing epithelioid fibrosarcoma' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730276 Label(s): Primary autoimmune ear disease + 'Primary autoimmune ear disease' SubClassOf 'part_of' some 'Rare deafness' + 'Primary autoimmune ear disease' SubClassOf 'Disease' + 'Primary autoimmune ear disease' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_720341 Label(s): Otofaciocervical syndrome without thymic hypoplasia + 'Otofaciocervical syndrome without thymic hypoplasia' SubClassOf 'part_of' some 'Otofaciocervical syndrome' + 'Otofaciocervical syndrome without thymic hypoplasia' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730261 Label(s): X-linked intellectual disability, Basilicata-Akhtar type + 'X-linked intellectual disability, Basilicata-Akhtar type' SubClassOf 'Disorder' + 'X-linked intellectual disability, Basilicata-Akhtar type' SubClassOf 'Malformation syndrome' + 'X-linked intellectual disability, Basilicata-Akhtar type' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730248 Label(s): Anti-CASPR1 nodopathy + 'Anti-CASPR1 nodopathy' SubClassOf 'Disorder' + 'Anti-CASPR1 nodopathy' SubClassOf 'part_of' some 'Autoimmune nodopathy' + 'Anti-CASPR1 nodopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730243 Label(s): Anti-CNTN1 nodopathy + 'Anti-CNTN1 nodopathy' SubClassOf 'Disorder' + 'Anti-CNTN1 nodopathy' SubClassOf 'part_of' some 'Autoimmune nodopathy' + 'Anti-CNTN1 nodopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730238 Label(s): Anti-pan-neurofascin nodopathy + 'Anti-pan-neurofascin nodopathy' SubClassOf 'Disorder' + 'Anti-pan-neurofascin nodopathy' SubClassOf 'part_of' some 'Autoimmune nodopathy' + 'Anti-pan-neurofascin nodopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730233 Label(s): Anti-NF155 nodopathy + 'Anti-NF155 nodopathy' SubClassOf 'Disorder' + 'Anti-NF155 nodopathy' SubClassOf 'part_of' some 'Autoimmune nodopathy' + 'Anti-NF155 nodopathy' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_728891 Label(s): Esophageal atresia type E + 'Esophageal atresia type E' SubClassOf 'Subtype of a disorder' + 'Esophageal atresia type E' SubClassOf 'part_of' some 'Esophageal atresia' Class: http://www.orpha.net/ORDO/Orphanet_730230 Label(s): Autoimmune nodopathy + 'Autoimmune nodopathy' SubClassOf 'Rare neuroinflammatory or neuroimmunological disease' + 'Autoimmune nodopathy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730226 Label(s): Infant-type hemispheric glioma, fusion-negative + 'Infant-type hemispheric glioma, fusion-negative' SubClassOf 'part_of' some 'Infant-type hemispheric glioma' + 'Infant-type hemispheric glioma, fusion-negative' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_728882 Label(s): Esophageal atresia type B + 'Esophageal atresia type B' SubClassOf 'part_of' some 'Esophageal atresia' + 'Esophageal atresia type B' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_728877 Label(s): Esophageal atresia type A + 'Esophageal atresia type A' SubClassOf 'Subtype of a disorder' + 'Esophageal atresia type A' SubClassOf 'part_of' some 'Esophageal atresia' Class: http://www.orpha.net/ORDO/Orphanet_728866 Label(s): Immune effector cell-associated neurotoxicity syndrome + 'Immune effector cell-associated neurotoxicity syndrome' SubClassOf 'Disorder' + 'Immune effector cell-associated neurotoxicity syndrome' SubClassOf 'Particular clinical situation in a disease or syndrome' + 'Immune effector cell-associated neurotoxicity syndrome' SubClassOf 'part_of' some 'Rare neuroinflammatory or neuroimmunological disease' Class: http://www.orpha.net/ORDO/Orphanet_730322 Label(s): Isolated anophthalmia + 'Isolated anophthalmia' SubClassOf 'Disorder' + 'Isolated anophthalmia' SubClassOf 'Morphological anomaly' + 'Isolated anophthalmia' SubClassOf 'part_of' some 'Isolated microphthalmia-anophthalmia-coloboma' Class: http://www.orpha.net/ORDO/Orphanet_727296 Label(s): Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome + 'Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome' SubClassOf 'Disease' + 'Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome' SubClassOf 'Disorder' + 'Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome' SubClassOf 'part_of' some 'Genetic skeletal muscle disease' + 'Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome' SubClassOf 'part_of' some 'Disorder of iron metabolism and transport' Class: http://www.orpha.net/ORDO/Orphanet_719339 Label(s): natriuretic peptide receptor 3 + 'natriuretic peptide receptor 3' SubClassOf 'has_chromosomal location' value "5p13.3" + 'natriuretic peptide receptor 3' SubClassOf 'gene with protein product' + 'natriuretic peptide receptor 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Tall stature-long halluces-multiple extra-epiphyses syndrome' Class: http://www.orpha.net/ORDO/Orphanet_720511 Label(s): transcription elongation factor, mitochondrial + 'transcription elongation factor, mitochondrial' SubClassOf 'has_chromosomal location' value "17q11.2" + 'transcription elongation factor, mitochondrial' SubClassOf 'gene with protein product' + 'transcription elongation factor, mitochondrial' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital myasthenic syndrome with mitochondrial defect' Class: http://www.orpha.net/ORDO/Orphanet_720508 Label(s): rabphilin 3A + 'rabphilin 3A' SubClassOf 'has_chromosomal location' value "12q24.13" + 'rabphilin 3A' SubClassOf 'gene with protein product' + 'rabphilin 3A' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis' Class: http://www.orpha.net/ORDO/Orphanet_723094 Label(s): Galactose-1-phosphate uridylyltransferase deficiency + 'Galactose-1-phosphate uridylyltransferase deficiency' SubClassOf 'Rare metabolic liver disease' + 'Galactose-1-phosphate uridylyltransferase deficiency' SubClassOf 'Galactosemia' + 'Galactose-1-phosphate uridylyltransferase deficiency' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723358 Label(s): Diffuse midline glioma, H3 K27-altered + 'Diffuse midline glioma, H3 K27-altered' SubClassOf 'Disorder' + 'Diffuse midline glioma, H3 K27-altered' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Diffuse midline glioma, H3 K27-altered' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_722982 Label(s): lysine demethylase 6B + 'lysine demethylase 6B' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Non-specific syndromic intellectual disability' + 'lysine demethylase 6B' SubClassOf 'has_chromosomal location' value "17p13.1" + 'lysine demethylase 6B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_725984 Label(s): Low-grade appendiceal mucinous neoplasm + 'Low-grade appendiceal mucinous neoplasm' SubClassOf 'Subtype of a disorder' + 'Low-grade appendiceal mucinous neoplasm' SubClassOf 'part_of' some 'Appendiceal mucinous neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_720314 Label(s): T-B-NK+ severe combined immunodeficiency without microcephaly + 'T-B-NK+ severe combined immunodeficiency without microcephaly' SubClassOf 'T-B-NK+ severe combined immunodeficiency' + 'T-B-NK+ severe combined immunodeficiency without microcephaly' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_728725 Label(s): Fetus in fetu + 'Fetus in fetu' SubClassOf 'Disease' + 'Fetus in fetu' SubClassOf 'Disorder' + 'Fetus in fetu' SubClassOf 'part_of' some 'Rare developmental defect during embryogenesis' Class: http://www.orpha.net/ORDO/Orphanet_723139 Label(s): Multifocal ectopic Purkinje-related premature contraction + 'Multifocal ectopic Purkinje-related premature contraction' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Multifocal ectopic Purkinje-related premature contraction' SubClassOf 'Disorder' + 'Multifocal ectopic Purkinje-related premature contraction' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_723290 Label(s): Pregnancy-associated spontaneous coronary artery dissection + 'Pregnancy-associated spontaneous coronary artery dissection' SubClassOf 'part_of' some 'Rare cardiac disease' + 'Pregnancy-associated spontaneous coronary artery dissection' SubClassOf 'Disorder' + 'Pregnancy-associated spontaneous coronary artery dissection' SubClassOf 'Disease' + 'Pregnancy-associated spontaneous coronary artery dissection' SubClassOf 'part_of' some 'Rare disorder related with pregnancy, childbirth and puerperium' Class: http://www.orpha.net/ORDO/Orphanet_719914 Label(s): Congenital myasthenic syndrome due to defective nuclear membrane protein + 'Congenital myasthenic syndrome due to defective nuclear membrane protein' SubClassOf 'Postsynaptic congenital myasthenic syndrome' + 'Congenital myasthenic syndrome due to defective nuclear membrane protein' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_720308 Label(s): T-B-NK+ severe combined immunodeficiency with microcephaly + 'T-B-NK+ severe combined immunodeficiency with microcephaly' SubClassOf 'Group of disorders' + 'T-B-NK+ severe combined immunodeficiency with microcephaly' SubClassOf 'T-B-NK+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_723161 Label(s): Combined immunodeficiency due to NFATC1 deficiency + 'Combined immunodeficiency due to NFATC1 deficiency' SubClassOf 'Disease' + 'Combined immunodeficiency due to NFATC1 deficiency' SubClassOf 'part_of' some 'Combined immunodeficiency with low immunoglobulins and normal B cells' + 'Combined immunodeficiency due to NFATC1 deficiency' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_723286 Label(s): Cutaneous epithelioid angiomatous nodule + 'Cutaneous epithelioid angiomatous nodule' SubClassOf 'Morphological anomaly' + 'Cutaneous epithelioid angiomatous nodule' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Cutaneous epithelioid angiomatous nodule' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma' + 'Cutaneous epithelioid angiomatous nodule' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_729987 Label(s): nucleoporin 188 + 'nucleoporin 188' SubClassOf 'has_chromosomal location' value "9q34.11" + 'nucleoporin 188' SubClassOf 'gene with protein product' + 'nucleoporin 188' SubClassOf 'disease-causing germline mutation(s) in' some 'Sandestig-Stefanova syndrome' Class: http://www.orpha.net/ORDO/Orphanet_723267 Label(s): Rare isolated port-wine capillary malformation + 'Rare isolated port-wine capillary malformation' SubClassOf 'Rare capillary malformation' + 'Rare isolated port-wine capillary malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723264 Label(s): Syndromic port-wine capillary malformation + 'Syndromic port-wine capillary malformation' SubClassOf 'Rare capillary malformation' + 'Syndromic port-wine capillary malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723256 Label(s): Rare vascular malformation + 'Rare vascular malformation' SubClassOf 'Rare vascular anomaly' + 'Rare vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723223 Label(s): Extrapulmonary non-tuberculous mycobacterial infection + 'Extrapulmonary non-tuberculous mycobacterial infection' SubClassOf 'Disorder' + 'Extrapulmonary non-tuberculous mycobacterial infection' SubClassOf 'Disease' + 'Extrapulmonary non-tuberculous mycobacterial infection' SubClassOf 'part_of' some 'Rare bacterial infectious disease' Class: http://www.orpha.net/ORDO/Orphanet_723218 Label(s): SITRAME Syndrome + 'SITRAME Syndrome' SubClassOf 'Clinical syndrome' + 'SITRAME Syndrome' SubClassOf 'Disorder' + 'SITRAME Syndrome' SubClassOf 'part_of' some 'Unclassified autoinflammatory syndrome' + 'SITRAME Syndrome' SubClassOf 'part_of' some 'Autoinflammatory syndrome with skin involvement' Class: http://www.orpha.net/ORDO/Orphanet_723203 Label(s): Choroidal and ciliary body melanoma + 'Choroidal and ciliary body melanoma' SubClassOf 'Disease' + 'Choroidal and ciliary body melanoma' SubClassOf 'Disorder' + 'Choroidal and ciliary body melanoma' SubClassOf 'part_of' some 'Rare malignant neoplastic choroidal disorder' Class: http://www.orpha.net/ORDO/Orphanet_726053 Label(s): Congenital amegakaryocytic thrombocytopenia without known causal genetic defect + 'Congenital amegakaryocytic thrombocytopenia without known causal genetic defect' SubClassOf 'part_of' some 'Congenital amegakaryocytic thrombocytopenia' + 'Congenital amegakaryocytic thrombocytopenia without known causal genetic defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_726047 Label(s): Congenital amegakaryocytic thrombocytopenia-MPL + 'Congenital amegakaryocytic thrombocytopenia-MPL' SubClassOf 'Subtype of a disorder' + 'Congenital amegakaryocytic thrombocytopenia-MPL' SubClassOf 'part_of' some 'Congenital amegakaryocytic thrombocytopenia' Class: http://www.orpha.net/ORDO/Orphanet_719936 Label(s): Angiokeratoma of Mibelli + 'Angiokeratoma of Mibelli' SubClassOf 'Morphological anomaly' + 'Angiokeratoma of Mibelli' SubClassOf 'part_of' some 'Skin vascular disease' + 'Angiokeratoma of Mibelli' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730067 Label(s): NudC domain containing 3 + 'NudC domain containing 3' SubClassOf 'has_chromosomal location' value "7p13" + 'NudC domain containing 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Omenn syndrome' + 'NudC domain containing 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_720280 Label(s): T-B+NK+ severe combined immunodeficiency + 'T-B+NK+ severe combined immunodeficiency' SubClassOf 'T-B+ severe combined immunodeficiency' + 'T-B+NK+ severe combined immunodeficiency' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_722990 Label(s): phosphoribosylformylglycinamidine synthase + 'phosphoribosylformylglycinamidine synthase' SubClassOf 'has_chromosomal location' value "17p13.1" + 'phosphoribosylformylglycinamidine synthase' SubClassOf 'gene with protein product' + 'phosphoribosylformylglycinamidine synthase' SubClassOf 'disease-causing germline mutation(s) in' some 'Phosphoribosylformylglycinamidine synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_723342 Label(s): Flow limitation in the iliac artery + 'Flow limitation in the iliac artery' SubClassOf 'part_of' some 'Non-inflammatory vasculopathy' + 'Flow limitation in the iliac artery' SubClassOf 'Disorder' + 'Flow limitation in the iliac artery' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_724268 Label(s): checkpoint kinase 1 + 'checkpoint kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' + 'checkpoint kinase 1' SubClassOf 'gene with protein product' + 'checkpoint kinase 1' SubClassOf 'has_chromosomal location' value "11q24.2" Class: http://www.orpha.net/ORDO/Orphanet_727632 Label(s): protein phosphatase 2 regulatory subunit B'gamma + 'protein phosphatase 2 regulatory subunit B'gamma' SubClassOf 'disease-causing germline mutation(s) in' some 'Houge-Janssens syndrome type 4' + 'protein phosphatase 2 regulatory subunit B'gamma' SubClassOf 'has_chromosomal location' value "14q32.31" + 'protein phosphatase 2 regulatory subunit B'gamma' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_728521 Label(s): Pontocerebellar hypoplasia type 17 + 'Pontocerebellar hypoplasia type 17' SubClassOf 'part_of' some 'Pontocerebellar hypoplasia' + 'Pontocerebellar hypoplasia type 17' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730021 Label(s): nitrilase 1 + 'nitrilase 1' SubClassOf 'has_chromosomal location' value "1q23.3" + 'nitrilase 1' SubClassOf 'gene with protein product' + 'nitrilase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'NIT1-related cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_726004 Label(s): Astrocytoma grade 4 + 'Astrocytoma grade 4' SubClassOf 'Disorder' + 'Astrocytoma grade 4' SubClassOf 'part_of' some 'High-grade astrocytoma' + 'Astrocytoma grade 4' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730016 Label(s): transmembrane protein 53 + 'transmembrane protein 53' SubClassOf 'disease-causing germline mutation(s) in' some 'Craniotubular dysplasia, Ikegawa type' + 'transmembrane protein 53' SubClassOf 'gene with protein product' + 'transmembrane protein 53' SubClassOf 'has_chromosomal location' value "1p34.1" Class: http://www.orpha.net/ORDO/Orphanet_728662 Label(s): Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome + 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' SubClassOf 'part_of' some 'Syndrome with a brainstem malformation as a major feature' + 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a brainstem malformation as a major feature' + 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' SubClassOf 'Disorder' + 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' SubClassOf 'part_of' some 'Rare syndromic genetic deafness' + 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730000 Label(s): megakaryocyte and platelet inhibitory receptor G6b + 'megakaryocyte and platelet inhibitory receptor G6b' SubClassOf 'has_chromosomal location' value "6p21.33" + 'megakaryocyte and platelet inhibitory receptor G6b' SubClassOf 'gene with protein product' + 'megakaryocyte and platelet inhibitory receptor G6b' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital macrothrombocytopenia with focal myelofibrosis' Class: http://www.orpha.net/ORDO/Orphanet_728656 Label(s): Bleeding diathesis due to thromboxane A2 receptor variants + 'Bleeding diathesis due to thromboxane A2 receptor variants' SubClassOf 'Disease' + 'Bleeding diathesis due to thromboxane A2 receptor variants' SubClassOf 'part_of' some 'Rare hemorrhagic disorder due to a qualitative platelet defect' + 'Bleeding diathesis due to thromboxane A2 receptor variants' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_728642 Label(s): Genetic syndrome or malformation associated with head and neck malformations + 'Genetic syndrome or malformation associated with head and neck malformations' SubClassOf 'Group of disorders' + 'Genetic syndrome or malformation associated with head and neck malformations' SubClassOf 'Genetic head and neck malformation' Class: http://www.orpha.net/ORDO/Orphanet_728633 Label(s): Idiopathic orbital inflammation syndrome + 'Idiopathic orbital inflammation syndrome' SubClassOf 'Disorder' + 'Idiopathic orbital inflammation syndrome' SubClassOf 'part_of' some 'Rare disorder involving multiple structures of the eye' + 'Idiopathic orbital inflammation syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_728619 Label(s): Early repolarization syndrome + 'Early repolarization syndrome' SubClassOf 'Disorder' + 'Early repolarization syndrome' SubClassOf 'Disease' + 'Early repolarization syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' Class: http://www.orpha.net/ORDO/Orphanet_720371 Label(s): T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency + 'T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency' SubClassOf 'Disorder' + 'T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency' SubClassOf 'Disease' + 'T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency' SubClassOf 'part_of' some 'T-B+NK+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_725898 Label(s): Bone marrow failure-diabetes mellitus syndrome + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'Disorder' + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare genetic diabetes mellitus' + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare constitutional aplastic anemia' + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'part_of' some 'Rare diabetes mellitus' + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'part_of' some 'Inherited bone marrow failure disorder with immune defect' + 'Bone marrow failure-diabetes mellitus syndrome' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_727394 Label(s): Autosomal recessive KLF1-related severe anemia + 'Autosomal recessive KLF1-related severe anemia' SubClassOf 'part_of' some 'Congenital dyserythropoietic anemia' + 'Autosomal recessive KLF1-related severe anemia' SubClassOf 'Disease' + 'Autosomal recessive KLF1-related severe anemia' SubClassOf 'part_of' some 'Rare constitutional hemolytic anemia' + 'Autosomal recessive KLF1-related severe anemia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_720357 Label(s): Otofaciocervical syndrome with thymic hypoplasia + 'Otofaciocervical syndrome with thymic hypoplasia' SubClassOf 'Subtype of a disorder' + 'Otofaciocervical syndrome with thymic hypoplasia' SubClassOf 'part_of' some 'Otofaciocervical syndrome' + 'Otofaciocervical syndrome with thymic hypoplasia' SubClassOf 'part_of' some 'Syndome with combined immunodeficiency due to thymic defect' + 'Otofaciocervical syndrome with thymic hypoplasia' SubClassOf 'part_of' some 'T-B+NK+ severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_723195 Label(s): Iris melanoma + 'Iris melanoma' SubClassOf 'Disease' + 'Iris melanoma' SubClassOf 'part_of' some 'Rare eye tumor' + 'Iris melanoma' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_720326 Label(s): Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome + 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' SubClassOf 'Disorder' + 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement' Class: http://www.orpha.net/ORDO/Orphanet_723261 Label(s): Syndromic venous malformation + 'Syndromic venous malformation' SubClassOf 'Group of disorders' + 'Syndromic venous malformation' SubClassOf 'Slow-flow malformation, venous type' Class: http://www.orpha.net/ORDO/Orphanet_723270 Label(s): Isolated glomeruloid hemangioma + 'Isolated glomeruloid hemangioma' SubClassOf 'Disorder' + 'Isolated glomeruloid hemangioma' SubClassOf 'part_of' some 'Benign vascular tumor' + 'Isolated glomeruloid hemangioma' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_720301 Label(s): T-B-NK+ severe combined immunodeficiency + 'T-B-NK+ severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' + 'T-B-NK+ severe combined immunodeficiency' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_726036 Label(s): Red cell aplasia-microcephaly-seizure-developmental delay syndrome + 'Red cell aplasia-microcephaly-seizure-developmental delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'Red cell aplasia-microcephaly-seizure-developmental delay syndrome' SubClassOf 'part_of' some 'Inherited bone marrow failure disorder with immune defect' + 'Red cell aplasia-microcephaly-seizure-developmental delay syndrome' SubClassOf 'part_of' some 'Rare constitutional aplastic anemia' + 'Red cell aplasia-microcephaly-seizure-developmental delay syndrome' SubClassOf 'Disease' + 'Red cell aplasia-microcephaly-seizure-developmental delay syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_723156 Label(s): Fetal acetylcholine receptor antibody-related disorder + 'Fetal acetylcholine receptor antibody-related disorder' SubClassOf 'part_of' some 'Arthrogryposis syndrome' + 'Fetal acetylcholine receptor antibody-related disorder' SubClassOf 'part_of' some 'Maternal disease-related embryofetopathy' + 'Fetal acetylcholine receptor antibody-related disorder' SubClassOf 'Disease' + 'Fetal acetylcholine receptor antibody-related disorder' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_723146 Label(s): Hyper-IgM syndrome due to INO80 deficiency + 'Hyper-IgM syndrome due to INO80 deficiency' SubClassOf 'Subtype of a disorder' + 'Hyper-IgM syndrome due to INO80 deficiency' SubClassOf 'part_of' some 'Hyper-IgM syndrome without susceptibility to opportunistic infections' Class: http://www.orpha.net/ORDO/Orphanet_723115 Label(s): sphingomyelin phosphodiesterase 4 + 'sphingomyelin phosphodiesterase 4' SubClassOf 'gene with protein product' + 'sphingomyelin phosphodiesterase 4' SubClassOf 'has_chromosomal location' value "2q21.1" + 'sphingomyelin phosphodiesterase 4' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome' Class: http://www.orpha.net/ORDO/Orphanet_723106 Label(s): Biochemical variant galactosemia + 'Biochemical variant galactosemia' SubClassOf 'Disorder' + 'Biochemical variant galactosemia' SubClassOf 'part_of' some 'Galactose-1-phosphate uridylyltransferase deficiency' + 'Biochemical variant galactosemia' SubClassOf 'Biological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_723101 Label(s): Clinical variant galactosemia + 'Clinical variant galactosemia' SubClassOf 'part_of' some 'Rare disorder potentially indicated for liver transplant' + 'Clinical variant galactosemia' SubClassOf 'Disease' + 'Clinical variant galactosemia' SubClassOf 'Disorder' + 'Clinical variant galactosemia' SubClassOf 'part_of' some 'Galactose-1-phosphate uridylyltransferase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_728764 Label(s): NIT1-related cerebral small vessel disease + 'NIT1-related cerebral small vessel disease' SubClassOf 'Disorder' + 'NIT1-related cerebral small vessel disease' SubClassOf 'part_of' some 'Disorder of the gamma-glutamyl cycle' + 'NIT1-related cerebral small vessel disease' SubClassOf 'Disease' + 'NIT1-related cerebral small vessel disease' SubClassOf 'part_of' some 'Genetic cerebral small vessel disease' Class: http://www.orpha.net/ORDO/Orphanet_726050 Label(s): Congenital amegakaryocytic thrombocytopenia-THPO + 'Congenital amegakaryocytic thrombocytopenia-THPO' SubClassOf 'part_of' some 'Congenital amegakaryocytic thrombocytopenia' + 'Congenital amegakaryocytic thrombocytopenia-THPO' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_728584 Label(s): PIK3CA-related overgrowth spectrum disorder with vascular malformation + 'PIK3CA-related overgrowth spectrum disorder with vascular malformation' SubClassOf 'Syndromic combined vascular malformation' + 'PIK3CA-related overgrowth spectrum disorder with vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_725992 Label(s): High-grade appendiceal mucinous neoplasm + 'High-grade appendiceal mucinous neoplasm' SubClassOf 'Subtype of a disorder' + 'High-grade appendiceal mucinous neoplasm' SubClassOf 'part_of' some 'Appendiceal mucinous neoplasm' Class: http://www.orpha.net/ORDO/Orphanet_728528 Label(s): Pontocerebellar hypoplasia and related disorders + 'Pontocerebellar hypoplasia and related disorders' SubClassOf 'Genetic midbrain-hindbrain malformation' + 'Pontocerebellar hypoplasia and related disorders' SubClassOf 'Midbrain-Hindbrain malformation' + 'Pontocerebellar hypoplasia and related disorders' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_727947 Label(s): lysine acetyltransferase 5 + 'lysine acetyltransferase 5' SubClassOf 'gene with protein product' + 'lysine acetyltransferase 5' SubClassOf 'has_chromosomal location' value "11q13.1" + 'lysine acetyltransferase 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' Class: http://www.orpha.net/ORDO/Orphanet_728514 Label(s): Pontocerebellar hypoplasia type 16 + 'Pontocerebellar hypoplasia type 16' SubClassOf 'Subtype of a disorder' + 'Pontocerebellar hypoplasia type 16' SubClassOf 'part_of' some 'Pontocerebellar hypoplasia' Class: http://www.orpha.net/ORDO/Orphanet_723074 Label(s): solute carrier family 6 member 11 + 'solute carrier family 6 member 11' SubClassOf 'role in the phenotype of' some 'Proximal 3p25.3 microdeletion syndrome' + 'solute carrier family 6 member 11' SubClassOf 'has_chromosomal location' value "3p25.3" + 'solute carrier family 6 member 11' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_728888 Label(s): Esophageal atresia type D + 'Esophageal atresia type D' SubClassOf 'part_of' some 'Esophageal atresia' + 'Esophageal atresia type D' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_728475 Label(s): Inherited bone marrow failure disorder with immune defect + 'Inherited bone marrow failure disorder with immune defect' SubClassOf 'Rare genetic immune disease' + 'Inherited bone marrow failure disorder with immune defect' SubClassOf 'Rare immune disease' + 'Inherited bone marrow failure disorder with immune defect' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_728467 Label(s): Congenital macrothrombocytopenia with focal myelofibrosis + 'Congenital macrothrombocytopenia with focal myelofibrosis' SubClassOf 'Disorder' + 'Congenital macrothrombocytopenia with focal myelofibrosis' SubClassOf 'part_of' some 'Syndromic constitutional thrombocytopenia' + 'Congenital macrothrombocytopenia with focal myelofibrosis' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_723439 Label(s): tRNA methyltransferase 2B + 'tRNA methyltransferase 2B' SubClassOf 'gene with protein product' + 'tRNA methyltransferase 2B' SubClassOf 'has_chromosomal location' value "Xq22.1" + 'tRNA methyltransferase 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Juvenile amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_724228 Label(s): ATP synthase peripheral stalk subunit OSCP + 'ATP synthase peripheral stalk subunit OSCP' SubClassOf 'gene with protein product' + 'ATP synthase peripheral stalk subunit OSCP' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated ATP synthase deficiency' + 'ATP synthase peripheral stalk subunit OSCP' SubClassOf 'has_chromosomal location' value "21q22.11" Class: http://www.orpha.net/ORDO/Orphanet_725964 Label(s): Appendiceal mucinous neoplasm + 'Appendiceal mucinous neoplasm' SubClassOf 'Disease' + 'Appendiceal mucinous neoplasm' SubClassOf 'Disorder' + 'Appendiceal mucinous neoplasm' SubClassOf 'part_of' some 'Epithelial tumor of the appendix' Class: http://www.orpha.net/ORDO/Orphanet_730393 Label(s): Genetic isolated posterior fossa cystic malformation + 'Genetic isolated posterior fossa cystic malformation' SubClassOf 'Genetic posterior fossa cystic malformation' + 'Genetic isolated posterior fossa cystic malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730396 Label(s): Invasive meningococcal disease + 'Invasive meningococcal disease' SubClassOf 'Disease' + 'Invasive meningococcal disease' SubClassOf 'part_of' some 'Rare bacterial infectious disease' + 'Invasive meningococcal disease' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_720027 Label(s): Late-onset spinal arteriovenous fistula + 'Late-onset spinal arteriovenous fistula' SubClassOf 'Disorder' + 'Late-onset spinal arteriovenous fistula' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Late-onset spinal arteriovenous fistula' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_720023 Label(s): Neonatal/infantile-onset spinal arteriovenous fistula + 'Neonatal/infantile-onset spinal arteriovenous fistula' SubClassOf 'Malformation syndrome' + 'Neonatal/infantile-onset spinal arteriovenous fistula' SubClassOf 'part_of' some 'Spinal fast-flow vascular malformation' + 'Neonatal/infantile-onset spinal arteriovenous fistula' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_720017 Label(s): Late-onset brain arteriovenous fistula + 'Late-onset brain arteriovenous fistula' SubClassOf 'Disorder' + 'Late-onset brain arteriovenous fistula' SubClassOf 'Morphological anomaly' + 'Late-onset brain arteriovenous fistula' SubClassOf 'part_of' some 'Intracranial fast-flow vascular malformation' Class: http://www.orpha.net/ORDO/Orphanet_735853 Label(s): fibronectin type III and SPRY domain containing 1 like + 'fibronectin type III and SPRY domain containing 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Cone rod dystrophy' + 'fibronectin type III and SPRY domain containing 1 like' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'fibronectin type III and SPRY domain containing 1 like' SubClassOf 'has_chromosomal location' value "9q31.2" + 'fibronectin type III and SPRY domain containing 1 like' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_735859 Label(s): RNA, U6 small nuclear 1 + 'RNA, U6 small nuclear 1' SubClassOf 'has_chromosomal location' value "15q23" + 'RNA, U6 small nuclear 1' SubClassOf 'gene with protein product' + 'RNA, U6 small nuclear 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' Class: http://www.orpha.net/ORDO/Orphanet_735865 Label(s): RNA, U6 small nuclear 9 + 'RNA, U6 small nuclear 9' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'RNA, U6 small nuclear 9' SubClassOf 'gene with protein product' + 'RNA, U6 small nuclear 9' SubClassOf 'has_chromosomal location' value "19p13.3" Class: http://www.orpha.net/ORDO/Orphanet_727864 Label(s): CD4 molecule + 'CD4 molecule' SubClassOf 'major susceptibility factor in' some 'Whipple disease' + 'CD4 molecule' SubClassOf 'has_chromosomal location' value "12p13.31" + 'CD4 molecule' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_728885 Label(s): Esophageal atresia type C + 'Esophageal atresia type C' SubClassOf 'Subtype of a disorder' + 'Esophageal atresia type C' SubClassOf 'part_of' some 'Esophageal atresia' Class: http://www.orpha.net/ORDO/Orphanet_728894 Label(s): Progestogen Hypersensitivity + 'Progestogen Hypersensitivity' SubClassOf 'Disorder' + 'Progestogen Hypersensitivity' SubClassOf 'part_of' some 'Rare allergic disease' + 'Progestogen Hypersensitivity' SubClassOf 'Disease' + 'Progestogen Hypersensitivity' SubClassOf 'part_of' some 'Other epidermal disorder' Class: http://www.orpha.net/ORDO/Orphanet_730222 Label(s): atonal bHLH transcription factor 1 + 'atonal bHLH transcription factor 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome' + 'atonal bHLH transcription factor 1' SubClassOf 'gene with protein product' + 'atonal bHLH transcription factor 1' SubClassOf 'has_chromosomal location' value "4q22.2" Class: http://www.orpha.net/ORDO/Orphanet_730256 Label(s): Low-grade fibromyxoid sarcoma + 'Low-grade fibromyxoid sarcoma' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Low-grade fibromyxoid sarcoma' SubClassOf 'Disease' + 'Low-grade fibromyxoid sarcoma' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_735906 Label(s): MAM domain containing glycosylphosphatidylinositol anchor 2 + 'MAM domain containing glycosylphosphatidylinositol anchor 2' SubClassOf 'has_chromosomal location' value "14q21.3" + 'MAM domain containing glycosylphosphatidylinositol anchor 2' SubClassOf 'gene with protein product' + 'MAM domain containing glycosylphosphatidylinositol anchor 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific early-onset epileptic encephalopathy' Class: http://www.orpha.net/ORDO/Orphanet_722560 Label(s): cyclin dependent kinase 10 + 'cyclin dependent kinase 10' SubClassOf 'has_chromosomal location' value "16q24.3" + 'cyclin dependent kinase 10' SubClassOf 'gene with protein product' + 'cyclin dependent kinase 10' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_725399 Label(s): anoctamin 1 + 'anoctamin 1' SubClassOf 'gene with protein product' + 'anoctamin 1' SubClassOf 'major susceptibility factor in' some 'Moyamoya disease' + 'anoctamin 1' SubClassOf 'has_chromosomal location' value "11q13.3" Class: http://www.orpha.net/ORDO/Orphanet_727126 Label(s): Isolated congenital long QT syndrome without known causative genetic defect + 'Isolated congenital long QT syndrome without known causative genetic defect' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' + 'Isolated congenital long QT syndrome without known causative genetic defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_727945 Label(s): monoamine oxidase B + 'monoamine oxidase B' SubClassOf 'has_chromosomal location' value "Xp11.3" + 'monoamine oxidase B' SubClassOf 'role in the phenotype of' some 'Monoamine oxidase A and monoamine oxidase B deficiency' + 'monoamine oxidase B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_727943 Label(s): microtubule affinity regulating kinase 2 + 'microtubule affinity regulating kinase 2' SubClassOf 'has_chromosomal location' value "11q13.1" + 'microtubule affinity regulating kinase 2' SubClassOf 'gene with protein product' + 'microtubule affinity regulating kinase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_727925 Label(s): Familial combined hypolipidemia + 'Familial combined hypolipidemia' SubClassOf 'Biological anomaly' + 'Familial combined hypolipidemia' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' + 'Familial combined hypolipidemia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_727915 Label(s): APOB-related familial hypobetalipoproteinemia + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'part_of' some 'Intestinal disease due to fat malabsorption' + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'Disease' + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'part_of' some 'Hypobetalipoproteinemia' + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'part_of' some 'Genetic intestinal disease due to fat malabsorption' + 'APOB-related familial hypobetalipoproteinemia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_727906 Label(s): MTSS I-BAR domain containing 2 + 'MTSS I-BAR domain containing 2' SubClassOf 'gene with protein product' + 'MTSS I-BAR domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'MTSS I-BAR domain containing 2' SubClassOf 'has_chromosomal location' value "16q22.1" Class: http://www.orpha.net/ORDO/Orphanet_727901 Label(s): HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 + 'HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2' SubClassOf 'gene with protein product' + 'HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome' + 'HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2' SubClassOf 'has_chromosomal location' value "2q32.3" Class: http://www.orpha.net/ORDO/Orphanet_730300 Label(s): Squalene synthase deficiency + 'Squalene synthase deficiency' SubClassOf 'part_of' some 'Sterol biosynthesis disorder' + 'Squalene synthase deficiency' SubClassOf 'Disorder' + 'Squalene synthase deficiency' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_730318 Label(s): ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome + 'ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency' + 'ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome' SubClassOf 'Disease' + 'ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome' + 'ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730418 Label(s): Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin' SubClassOf 'Subtype of a disorder' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic origin' SubClassOf 'part_of' some 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_727881 Label(s): Medullary tegmental cap dysplasia + 'Medullary tegmental cap dysplasia' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Medullary tegmental cap dysplasia' SubClassOf 'Disorder' + 'Medullary tegmental cap dysplasia' SubClassOf 'Morphological anomaly' + 'Medullary tegmental cap dysplasia' SubClassOf 'part_of' some 'Syndrome with a brainstem malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_730355 Label(s): Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome + 'Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730699 Label(s): Genetic syndromic rhombencephalosynapsis + 'Genetic syndromic rhombencephalosynapsis' SubClassOf 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Genetic syndromic rhombencephalosynapsis' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_727861 Label(s): YARS1-related multisystemic disease + 'YARS1-related multisystemic disease' SubClassOf 'part_of' some 'Other metabolic disease' + 'YARS1-related multisystemic disease' SubClassOf 'Disorder' + 'YARS1-related multisystemic disease' SubClassOf 'part_of' some 'Rare metabolic liver disease' + 'YARS1-related multisystemic disease' SubClassOf 'part_of' some 'Neurometabolic disease' + 'YARS1-related multisystemic disease' SubClassOf 'part_of' some 'Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome' + 'YARS1-related multisystemic disease' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_726684 Label(s): Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as a major feature' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'Disorder' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' Class: http://www.orpha.net/ORDO/Orphanet_727859 Label(s): deoxyuridine triphosphatase + 'deoxyuridine triphosphatase' SubClassOf 'gene with protein product' + 'deoxyuridine triphosphatase' SubClassOf 'has_chromosomal location' value "15q21.1" + 'deoxyuridine triphosphatase' SubClassOf 'disease-causing germline mutation(s) in' some 'Bone marrow failure-diabetes mellitus syndrome' Class: http://www.orpha.net/ORDO/Orphanet_726690 Label(s): H3 clustered histone 14 + 'H3 clustered histone 14' SubClassOf 'disease-causing somatic mutation(s) in' some 'Diffuse midline glioma, H3 K27-altered' + 'H3 clustered histone 14' SubClassOf 'gene with protein product' + 'H3 clustered histone 14' SubClassOf 'has_chromosomal location' value "1q21.2" Class: http://www.orpha.net/ORDO/Orphanet_730376 Label(s): Rare acquired isolated progressive generalized retinal disorder + 'Rare acquired isolated progressive generalized retinal disorder' SubClassOf 'Rare isolated progressive generalized retinal disorder' + 'Rare acquired isolated progressive generalized retinal disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_730379 Label(s): Papulonecrotic tuberculid + 'Papulonecrotic tuberculid' SubClassOf 'part_of' some 'Tuberculid' + 'Papulonecrotic tuberculid' SubClassOf 'Disorder' + 'Papulonecrotic tuberculid' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_727820 Label(s): Brainstem disconnection syndrome + 'Brainstem disconnection syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as a major feature' + 'Brainstem disconnection syndrome' SubClassOf 'Disease' + 'Brainstem disconnection syndrome' SubClassOf 'part_of' some 'Syndrome with a brainstem malformation as a major feature' + 'Brainstem disconnection syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_727803 Label(s): Isolated global cerebellar hypoplasia + 'Isolated global cerebellar hypoplasia' SubClassOf 'Morphological anomaly' + 'Isolated global cerebellar hypoplasia' SubClassOf 'part_of' some 'Global cerebellar malformation' + 'Isolated global cerebellar hypoplasia' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_726788 Label(s): Calcium release deficiency syndrome + 'Calcium release deficiency syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease' + 'Calcium release deficiency syndrome' SubClassOf 'Disease' + 'Calcium release deficiency syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730721 Label(s): Isolated partial colobomatous microphthalmia + 'Isolated partial colobomatous microphthalmia' SubClassOf 'part_of' some 'Isolated colobomatous microphthalmia' + 'Isolated partial colobomatous microphthalmia' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_729560 Label(s): Forebrain malformation + 'Forebrain malformation' SubClassOf 'Central nervous system malformation' + 'Forebrain malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_726711 Label(s): WD repeat domain, phosphoinositide interacting 2 + 'WD repeat domain, phosphoinositide interacting 2' SubClassOf 'has_chromosomal location' value "7p22.1" + 'WD repeat domain, phosphoinositide interacting 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' + 'WD repeat domain, phosphoinositide interacting 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_735855 Label(s): stabilizer of axonemal microtubules 6 + 'stabilizer of axonemal microtubules 6' SubClassOf 'gene with protein product' + 'stabilizer of axonemal microtubules 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'stabilizer of axonemal microtubules 6' SubClassOf 'has_chromosomal location' value "12q15" Class: http://www.orpha.net/ORDO/Orphanet_730746 Label(s): Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form + 'Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'part_of' some 'TK2-related mitochondrial DNA maintenance defect, myopathic form' + 'Late-onset TK2-related mitochondrial DNA maintenance defect, myopathic form' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_726793 Label(s): Venezuelan equine encephalitis + 'Venezuelan equine encephalitis' SubClassOf 'Disease' + 'Venezuelan equine encephalitis' SubClassOf 'part_of' some 'Infectious encephalitis' + 'Venezuelan equine encephalitis' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_735891 Label(s): MAU2 sister chromatid cohesion factor + 'MAU2 sister chromatid cohesion factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Cornelia de Lange syndrome' + 'MAU2 sister chromatid cohesion factor' SubClassOf 'gene with protein product' + 'MAU2 sister chromatid cohesion factor' SubClassOf 'has_chromosomal location' value "19p13.11" Class: http://www.orpha.net/ORDO/Orphanet_726799 Label(s): TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome + 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' SubClassOf 'Disorder' + 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_724143 Label(s): Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature' + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'Disorder' + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_721329 Label(s): damage specific DNA binding protein 1 + 'damage specific DNA binding protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-facial dysmorphism-brachydactyly syndrome' + 'damage specific DNA binding protein 1' SubClassOf 'has_chromosomal location' value "11q12.2" + 'damage specific DNA binding protein 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_247151 Label(s): angiopoietin like 3 + 'angiopoietin like 3' SubClassOf 'has_chromosomal location' value "1p31.3" + 'angiopoietin like 3' SubClassOf 'gene with protein product' + 'angiopoietin like 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Familial combined hypolipidemia' Class: http://www.orpha.net/ORDO/Orphanet_722218 Label(s): actin related protein 2 + 'actin related protein 2' SubClassOf 'gene with protein product' + 'actin related protein 2' SubClassOf 'has_chromosomal location' value "2p14" + 'actin related protein 2' SubClassOf 'role in the phenotype of' some '2p14p15 microdeletion syndrome' Class: http://www.orpha.net/ORDO/Orphanet_722213 Label(s): RAB1A, member RAS oncogene family + 'RAB1A, member RAS oncogene family' SubClassOf 'gene with protein product' + 'RAB1A, member RAS oncogene family' SubClassOf 'role in the phenotype of' some '2p14p15 microdeletion syndrome' + 'RAB1A, member RAS oncogene family' SubClassOf 'has_chromosomal location' value "2p14" Class: http://www.orpha.net/ORDO/Orphanet_730882 Label(s): Primary amoebic meningoencephalitis + 'Primary amoebic meningoencephalitis' SubClassOf 'Subtype of a disorder' + 'Primary amoebic meningoencephalitis' SubClassOf 'part_of' some 'Amoebiasis due to free-living amoebae' Class: http://www.orpha.net/ORDO/Orphanet_730892 Label(s): Ossifying fibromyxoid tumor + 'Ossifying fibromyxoid tumor' SubClassOf 'part_of' some 'Soft tissue sarcoma' + 'Ossifying fibromyxoid tumor' SubClassOf 'Disorder' + 'Ossifying fibromyxoid tumor' SubClassOf 'Disease' Class: http://www.orpha.net/ORDO/Orphanet_727651 Label(s): Loin pain-hematuria syndrome + 'Loin pain-hematuria syndrome' SubClassOf 'Disorder' + 'Loin pain-hematuria syndrome' SubClassOf 'Disease' + 'Loin pain-hematuria syndrome' SubClassOf 'part_of' some 'Rare renal disease' Class: http://www.orpha.net/ORDO/Orphanet_727620 Label(s): 16p13.11p11.2 triplication/16p11.2 duplication syndrome + '16p13.11p11.2 triplication/16p11.2 duplication syndrome' SubClassOf 'Malformation syndrome' + '16p13.11p11.2 triplication/16p11.2 duplication syndrome' SubClassOf 'Disorder' + '16p13.11p11.2 triplication/16p11.2 duplication syndrome' SubClassOf 'part_of' some 'Complex chromosomal rearrangement syndrome' + '16p13.11p11.2 triplication/16p11.2 duplication syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + '16p13.11p11.2 triplication/16p11.2 duplication syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_724222 Label(s): cell division cycle 20 + 'cell division cycle 20' SubClassOf 'gene with protein product' + 'cell division cycle 20' SubClassOf 'has_chromosomal location' value "1p34.2" + 'cell division cycle 20' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_724257 Label(s): protein tyrosine phosphatase receptor type J + 'protein tyrosine phosphatase receptor type J' SubClassOf 'gene with protein product' + 'protein tyrosine phosphatase receptor type J' SubClassOf 'disease-causing germline mutation(s) in' some 'Congenital autosomal recessive small-platelet thrombocytopenia' + 'protein tyrosine phosphatase receptor type J' SubClassOf 'has_chromosomal location' value "11p11.2" Class: http://www.orpha.net/ORDO/Orphanet_720014 Label(s): Neonatal/infantile-onset brain arteriovenous fistula + 'Neonatal/infantile-onset brain arteriovenous fistula' SubClassOf 'part_of' some 'Intracranial fast-flow vascular malformation' + 'Neonatal/infantile-onset brain arteriovenous fistula' SubClassOf 'Malformation syndrome' + 'Neonatal/infantile-onset brain arteriovenous fistula' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_730631 Label(s): CASQ2-related catecholaminergic polymorphic ventricular tachycardia + 'CASQ2-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Subtype of a disorder' + 'CASQ2-related catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' Class: http://www.orpha.net/ORDO/Orphanet_729781 Label(s): Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Alopecia' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Rare syndromic genetic deafness' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Genetic alopecia' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'Disorder' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation' + 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' SubClassOf 'Malformation syndrome' Class: http://www.orpha.net/ORDO/Orphanet_727141 Label(s): KCNQ1-related isolated congenital long QT syndrome + 'KCNQ1-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' + 'KCNQ1-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_727163 Label(s): TRDN-related isolated congenital long QT syndrome + 'TRDN-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' + 'TRDN-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_727192 Label(s): Calmodulin-related isolated congenital long QT syndrome + 'Calmodulin-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' + 'Calmodulin-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_730382 Label(s): Genetic midbrain-hindbrain malformation + 'Genetic midbrain-hindbrain malformation' SubClassOf 'Genetic central nervous system malformation' + 'Genetic midbrain-hindbrain malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_723518 Label(s): Isolated combined vascular malformation + 'Isolated combined vascular malformation' SubClassOf 'Rare combined vascular malformation' + 'Isolated combined vascular malformation' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_727203 Label(s): SCN5A-related isolated congenital long QT syndrome + 'SCN5A-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' + 'SCN5A-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_720294 Label(s): T-B-NK- severe combined immunodeficiency + 'T-B-NK- severe combined immunodeficiency' SubClassOf 'Group of disorders' + 'T-B-NK- severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' Class: http://www.orpha.net/ORDO/Orphanet_727433 Label(s): transcobalamin 1 + 'transcobalamin 1' SubClassOf 'gene with protein product' + 'transcobalamin 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Haptocorrin deficiency' + 'transcobalamin 1' SubClassOf 'has_chromosomal location' value "11q12.1" Class: http://www.orpha.net/ORDO/Orphanet_731279 Label(s): farnesyl-diphosphate farnesyltransferase 1 + 'farnesyl-diphosphate farnesyltransferase 1' SubClassOf 'gene with protein product' + 'farnesyl-diphosphate farnesyltransferase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Squalene synthase deficiency' Class: http://www.orpha.net/ORDO/Orphanet_727301 Label(s): cytosolic iron-sulfur assembly component 1 + 'cytosolic iron-sulfur assembly component 1' SubClassOf 'has_chromosomal location' value "2q11.2" + 'cytosolic iron-sulfur assembly component 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome' + 'cytosolic iron-sulfur assembly component 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_721652 Label(s): H3.3 histone A + 'H3.3 histone A' SubClassOf 'disease-causing somatic mutation(s) in' some 'Diffuse hemispheric glioma-H3 G34-mutant' + 'H3.3 histone A' SubClassOf 'disease-causing somatic mutation(s) in' some 'Diffuse midline glioma, H3 K27-altered' + 'H3.3 histone A' SubClassOf 'gene with protein product' + 'H3.3 histone A' SubClassOf 'has_chromosomal location' value "1q42.12" Class: http://www.orpha.net/ORDO/Orphanet_735876 Label(s): TATA-box binding protein associated factor 11 + 'TATA-box binding protein associated factor 11' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated cleft lip' + 'TATA-box binding protein associated factor 11' SubClassOf 'gene with protein product' + 'TATA-box binding protein associated factor 11' SubClassOf 'has_chromosomal location' value "6p21.31" Class: http://www.orpha.net/ORDO/Orphanet_735878 Label(s): Tax1 binding protein 3 + 'Tax1 binding protein 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant' + 'Tax1 binding protein 3' SubClassOf 'has_chromosomal location' value "17p13.2" + 'Tax1 binding protein 3' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_729983 Label(s): PR/SET domain 13 + 'PR/SET domain 13' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Pontocerebellar hypoplasia type 17' + 'PR/SET domain 13' SubClassOf 'has_chromosomal location' value "6q16.2" + 'PR/SET domain 13' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_729998 Label(s): ZPR1 zinc finger + 'ZPR1 zinc finger' SubClassOf 'gene with protein product' + 'ZPR1 zinc finger' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome' + 'ZPR1 zinc finger' SubClassOf 'has_chromosomal location' value "11q23.3" Class: http://www.orpha.net/ORDO/Orphanet_722325 Label(s): DNA polymerase delta 2, accessory subunit + 'DNA polymerase delta 2, accessory subunit' SubClassOf 'has_chromosomal location' value "7p13" + 'DNA polymerase delta 2, accessory subunit' SubClassOf 'disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to polymerase delta deficiency' + 'DNA polymerase delta 2, accessory subunit' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_731339 Label(s): solute carrier family 19 member 1 + 'solute carrier family 19 member 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' + 'solute carrier family 19 member 1' SubClassOf 'gene with protein product' + 'solute carrier family 19 member 1' SubClassOf 'has_chromosomal location' value "21q22.3" Class: http://www.orpha.net/ORDO/Orphanet_727359 Label(s): BLOC-1 related complex subunit 5 + 'BLOC-1 related complex subunit 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Infantile osteopetrosis with neuroaxonal dysplasia' + 'BLOC-1 related complex subunit 5' SubClassOf 'gene with protein product' + 'BLOC-1 related complex subunit 5' SubClassOf 'has_chromosomal location' value "12p13.2" Class: http://www.orpha.net/ORDO/Orphanet_731380 Label(s): PHD finger protein 1 + 'PHD finger protein 1' SubClassOf 'part of a fusion gene in' some 'Ossifying fibromyxoid tumor' + 'PHD finger protein 1' SubClassOf 'has_chromosomal location' value "6p21.32" + 'PHD finger protein 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_731305 Label(s): lymphocyte cytosolic protein 2 + 'lymphocyte cytosolic protein 2' SubClassOf 'has_chromosomal location' value "5q35.1" + 'lymphocyte cytosolic protein 2' SubClassOf 'disease-causing germline mutation(s) in' some 'T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency' + 'lymphocyte cytosolic protein 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_721665 Label(s): elongator acetyltransferase complex subunit 2 + 'elongator acetyltransferase complex subunit 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome' + 'elongator acetyltransferase complex subunit 2' SubClassOf 'gene with protein product' + 'elongator acetyltransferase complex subunit 2' SubClassOf 'has_chromosomal location' value "18q12.2" Class: http://www.orpha.net/ORDO/Orphanet_721662 Label(s): lysine demethylase 2B + 'lysine demethylase 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-facial dysmorphism-atrial septal defect syndrome' + 'lysine demethylase 2B' SubClassOf 'gene with protein product' + 'lysine demethylase 2B' SubClassOf 'role in the phenotype of' some '12q24.31 microdeletion syndrome' + 'lysine demethylase 2B' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' + 'lysine demethylase 2B' SubClassOf 'has_chromosomal location' value "12q24.31" Class: http://www.orpha.net/ORDO/Orphanet_721660 Label(s): DNA primase subunit 1 + 'DNA primase subunit 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency' + 'DNA primase subunit 1' SubClassOf 'gene with protein product' + 'DNA primase subunit 1' SubClassOf 'has_chromosomal location' value "12q13.3" Class: http://www.orpha.net/ORDO/Orphanet_721657 Label(s): transducin beta like 1 Y-linked + 'transducin beta like 1 Y-linked' SubClassOf 'disease-causing germline mutation(s) in' some 'Y-linked non-syndromic genetic deafness' + 'transducin beta like 1 Y-linked' SubClassOf 'gene with protein product' + 'transducin beta like 1 Y-linked' SubClassOf 'has_chromosomal location' value "Yp11.2" Class: http://www.orpha.net/ORDO/Orphanet_721655 Label(s): p21 (RAC1) activated kinase 1 + 'p21 (RAC1) activated kinase 1' SubClassOf 'has_chromosomal location' value "11q13.5-q14.1" + 'p21 (RAC1) activated kinase 1' SubClassOf 'gene with protein product' + 'p21 (RAC1) activated kinase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730415 Label(s): Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause' SubClassOf 'Subtype of a disorder' + 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic cause' SubClassOf 'part_of' some 'Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder' Class: http://www.orpha.net/ORDO/Orphanet_730327 Label(s): Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome + 'Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome' SubClassOf 'Disorder' Class: http://www.orpha.net/ORDO/Orphanet_731276 Label(s): MSL complex subunit 3 + 'MSL complex subunit 3' SubClassOf 'disease-causing germline mutation(s) in' some 'X-linked intellectual disability, Basilicata-Akhtar type' + 'MSL complex subunit 3' SubClassOf 'gene with protein product' + 'MSL complex subunit 3' SubClassOf 'has_chromosomal location' value "Xp22.2" Class: http://www.orpha.net/ORDO/Orphanet_731272 Label(s): NCK associated protein 1 + 'NCK associated protein 1' SubClassOf 'gene with protein product' + 'NCK associated protein 1' SubClassOf 'has_chromosomal location' value "2q32.1" + 'NCK associated protein 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Non-specific syndromic intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_730693 Label(s): Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder + 'Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'Rare neurologic disease' + 'Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'Rare genetic neurological disorder' + 'Rare complex neurodevelopmental disorder without intellectual disability or autism spectrum disorder' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_731258 Label(s): asparaginyl-tRNA synthetase 1 + 'asparaginyl-tRNA synthetase 1' SubClassOf 'gene with protein product' + 'asparaginyl-tRNA synthetase 1' SubClassOf 'has_chromosomal location' value "18q21.31" + 'asparaginyl-tRNA synthetase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome' Class: http://www.orpha.net/ORDO/Orphanet_731245 Label(s): RING1 and YY1 binding protein + 'RING1 and YY1 binding protein' SubClassOf 'gene with protein product' + 'RING1 and YY1 binding protein' SubClassOf 'disease-causing germline mutation(s) in' some 'Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome' + 'RING1 and YY1 binding protein' SubClassOf 'has_chromosomal location' value "RING1 and YY1 binding protein" Class: http://www.orpha.net/ORDO/Orphanet_731236 Label(s): inositol 1,4,5-trisphosphate receptor type 3 + 'inositol 1,4,5-trisphosphate receptor type 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Charcot-Marie-Tooth disease type 1J' + 'inositol 1,4,5-trisphosphate receptor type 3' SubClassOf 'gene with protein product' + 'inositol 1,4,5-trisphosphate receptor type 3' SubClassOf 'disease-causing germline mutation(s) in' some 'ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome' + 'inositol 1,4,5-trisphosphate receptor type 3' SubClassOf 'has_chromosomal location' value "6p21.31" Class: http://www.orpha.net/ORDO/Orphanet_726695 Label(s): Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome + 'Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome' SubClassOf 'Malformation syndrome' + 'Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome' SubClassOf 'Disorder' + 'Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' Class: http://www.orpha.net/ORDO/Orphanet_730373 Label(s): Tuberculid + 'Tuberculid' SubClassOf 'Other acquired skin disease' + 'Tuberculid' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_727185 Label(s): KCNE1-related isolated congenital long QT syndrome + 'KCNE1-related isolated congenital long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' + 'KCNE1-related isolated congenital long QT syndrome' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_727156 Label(s): CACNA1C-related isolated congenital Long QT syndrome + 'CACNA1C-related isolated congenital Long QT syndrome' SubClassOf 'Subtype of a disorder' + 'CACNA1C-related isolated congenital Long QT syndrome' SubClassOf 'part_of' some 'Isolated congenital long QT syndrome' Class: http://www.orpha.net/ORDO/Orphanet_730702 Label(s): Primary extra-pulmonary tuberculosis + 'Primary extra-pulmonary tuberculosis' SubClassOf 'Subtype of a disorder' + 'Primary extra-pulmonary tuberculosis' SubClassOf 'part_of' some 'Tuberculosis' Class: http://www.orpha.net/ORDO/Orphanet_730728 Label(s): Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect + 'Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect' SubClassOf 'part_of' some 'Catecholaminergic polymorphic ventricular tachycardia' + 'Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect' SubClassOf 'Subtype of a disorder' Class: http://www.orpha.net/ORDO/Orphanet_724234 Label(s): G protein-coupled receptor class C group 5 member B + 'G protein-coupled receptor class C group 5 member B' SubClassOf 'has_chromosomal location' value "16p12.3" + 'G protein-coupled receptor class C group 5 member B' SubClassOf 'gene with protein product' + 'G protein-coupled receptor class C group 5 member B' SubClassOf 'disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' Class: http://www.orpha.net/ORDO/Orphanet_724232 Label(s): aquaporin 4 + 'aquaporin 4' SubClassOf 'has_chromosomal location' value "18q11.2" + 'aquaporin 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Megalencephalic leukoencephalopathy with subcortical cysts' + 'aquaporin 4' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_724230 Label(s): MOS proto-oncogene, serine/threonine kinase + 'MOS proto-oncogene, serine/threonine kinase' SubClassOf 'has_chromosomal location' value "8q12.1" + 'MOS proto-oncogene, serine/threonine kinase' SubClassOf 'gene with protein product' + 'MOS proto-oncogene, serine/threonine kinase' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' Class: http://www.orpha.net/ORDO/Orphanet_724226 Label(s): NLR family pyrin domain containing 5 + 'NLR family pyrin domain containing 5' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' + 'NLR family pyrin domain containing 5' SubClassOf 'gene with protein product' + 'NLR family pyrin domain containing 5' SubClassOf 'has_chromosomal location' value "19q13.43" Class: http://www.orpha.net/ORDO/Orphanet_724224 Label(s): NLR family pyrin domain containing 2 + 'NLR family pyrin domain containing 2' SubClassOf 'gene with protein product' + 'NLR family pyrin domain containing 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' + 'NLR family pyrin domain containing 2' SubClassOf 'has_chromosomal location' value "19q13.42" Class: http://www.orpha.net/ORDO/Orphanet_726843 Label(s): Sweat glands anomaly + 'Sweat glands anomaly' SubClassOf 'Epidermal appendage anomaly' + 'Sweat glands anomaly' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_726832 Label(s): Radiation-induced Moyamoya syndrome + 'Radiation-induced Moyamoya syndrome' SubClassOf 'Disease' + 'Radiation-induced Moyamoya syndrome' SubClassOf 'part_of' some 'Moyamoya angiopathy' + 'Radiation-induced Moyamoya syndrome' SubClassOf 'Disorder' + 'Radiation-induced Moyamoya syndrome' SubClassOf 'part_of' some 'Radiation-induced disorder' Class: http://www.orpha.net/ORDO/Orphanet_730887 Label(s): Granulomatous amoebic encephalitis + 'Granulomatous amoebic encephalitis' SubClassOf 'Subtype of a disorder' + 'Granulomatous amoebic encephalitis' SubClassOf 'part_of' some 'Amoebiasis due to free-living amoebae' Class: http://www.orpha.net/ORDO/Orphanet_726812 Label(s): Self limited focal childhood epilepsy + 'Self limited focal childhood epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' + 'Self limited focal childhood epilepsy' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_729678 Label(s): peptidyl arginine deiminase 6 + 'peptidyl arginine deiminase 6' SubClassOf 'has_chromosomal location' value "1p36.13" + 'peptidyl arginine deiminase 6' SubClassOf 'disease-causing germline mutation(s) in' some 'Female infertility due to oocyte meiotic arrest' + 'peptidyl arginine deiminase 6' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_729676 Label(s): NADH:ubiquinone oxidoreductase subunit A9 + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'has_chromosomal location' value "1p36.13" + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'gene with protein product' + 'NADH:ubiquinone oxidoreductase subunit A9' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated complex I deficiency' Class: http://www.orpha.net/ORDO/Orphanet_726807 Label(s): PTEN hamartoma of soft tissue + 'PTEN hamartoma of soft tissue' SubClassOf 'part_of' some 'Peripheral fast-flow vascular malformation' + 'PTEN hamartoma of soft tissue' SubClassOf 'Disorder' + 'PTEN hamartoma of soft tissue' SubClassOf 'part_of' some 'Overgrowth syndrome' + 'PTEN hamartoma of soft tissue' SubClassOf 'part_of' some 'Isolated combined vascular malformation' + 'PTEN hamartoma of soft tissue' SubClassOf 'part_of' some 'Unifocal peripheral venous malformation' + 'PTEN hamartoma of soft tissue' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_729649 Label(s): Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'Disease' + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'part_of' some 'Genetic cerebral small vessel disease' + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'Disorder' + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability' + 'Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder' SubClassOf 'part_of' some 'Leukodystrophy' Class: http://www.orpha.net/ORDO/Orphanet_729632 Label(s): ribosomal RNA processing 12 homolog + 'ribosomal RNA processing 12 homolog' SubClassOf 'gene with protein product' + 'ribosomal RNA processing 12 homolog' SubClassOf 'has_chromosomal location' value "10q24.1" + 'ribosomal RNA processing 12 homolog' SubClassOf 'disease-causing germline mutation(s) in' some 'Bilateral striopallidodentate calcinosis' Class: http://www.orpha.net/ORDO/Orphanet_729630 Label(s): RB binding protein 7, chromatin remodeling factor + 'RB binding protein 7, chromatin remodeling factor' SubClassOf 'disease-causing germline mutation(s) in' some 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' + 'RB binding protein 7, chromatin remodeling factor' SubClassOf 'gene with protein product' + 'RB binding protein 7, chromatin remodeling factor' SubClassOf 'has_chromosomal location' value "Xp22.2" Class: http://www.orpha.net/ORDO/Orphanet_729628 Label(s): transmembrane O-mannosyltransferase targeting cadherins 4 + 'transmembrane O-mannosyltransferase targeting cadherins 4' SubClassOf 'disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic genetic deafness' + 'transmembrane O-mannosyltransferase targeting cadherins 4' SubClassOf 'gene with protein product' + 'transmembrane O-mannosyltransferase targeting cadherins 4' SubClassOf 'has_chromosomal location' value "13q32.3" Class: http://www.orpha.net/ORDO/Orphanet_719931 Label(s): Angiokeratoma circumscriptum + 'Angiokeratoma circumscriptum' SubClassOf 'part_of' some 'Rare lymphatic malformation' + 'Angiokeratoma circumscriptum' SubClassOf 'Disorder' + 'Angiokeratoma circumscriptum' SubClassOf 'Morphological anomaly' Class: http://www.orpha.net/ORDO/Orphanet_719950 Label(s): Complex lymphatic anomaly + 'Complex lymphatic anomaly' SubClassOf 'Rare lymphatic malformation' + 'Complex lymphatic anomaly' SubClassOf 'Group of disorders' Class: http://www.orpha.net/ORDO/Orphanet_724165 Label(s): hexokinase domain containing 1 + 'hexokinase domain containing 1' SubClassOf 'gene with protein product' + 'hexokinase domain containing 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Retinitis pigmentosa' + 'hexokinase domain containing 1' SubClassOf 'has_chromosomal location' value "10q22.1" ################ @Classes deleted from this version Class: http://www.orpha.net/ORDO/Orphanet_663850 Label(s): N-ribosyldihydronicotinamide:quinone dehydrogenase 2 + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'gene with protein product' + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' + 'N-ribosyldihydronicotinamide:quinone dehydrogenase 2' SubClassOf 'has_chromosomal location' value "6p25.2" Class: http://www.orpha.net/ORDO/Orphanet_159918 Label(s): activin A receptor type 2B + 'activin A receptor type 2B' SubClassOf 'major susceptibility factor in' some 'Situs ambiguus' + 'activin A receptor type 2B' SubClassOf 'has_chromosomal location' value "3p22.2" + 'activin A receptor type 2B' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_562473 Label(s): nidogen 1 + 'nidogen 1' SubClassOf 'gene with protein product' + 'nidogen 1' SubClassOf 'has_chromosomal location' value "1q42.3" + 'nidogen 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Isolated Dandy-Walker malformation without hydrocephalus' Class: http://www.orpha.net/ORDO/Orphanet_233066 Label(s): microseminoprotein beta + 'microseminoprotein beta' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' + 'microseminoprotein beta' SubClassOf 'gene with protein product' + 'microseminoprotein beta' SubClassOf 'has_chromosomal location' value "10q11.22" Class: http://www.orpha.net/ORDO/Orphanet_330902 Label(s): T-cell receptor gamma locus + 'T-cell receptor gamma locus' SubClassOf 'gene with protein product' + 'T-cell receptor gamma locus' SubClassOf 'has_chromosomal location' value "7p14" + 'T-cell receptor gamma locus' SubClassOf 'candidate gene tested in' some 'Precursor T-cell acute lymphoblastic leukemia' Class: http://www.orpha.net/ORDO/Orphanet_326886 Label(s): killin, p53 regulated DNA replication inhibitor + 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'has_chromosomal location' value "10q23" + 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'gene with protein product' + 'killin, p53 regulated DNA replication inhibitor' SubClassOf 'major susceptibility factor in' some 'Hereditary breast cancer' Class: http://www.orpha.net/ORDO/Orphanet_289008 Label(s): nitric oxide synthase 1 adaptor protein + 'nitric oxide synthase 1 adaptor protein' SubClassOf 'modifying germline mutation in' some 'Romano-Ward syndrome' + 'nitric oxide synthase 1 adaptor protein' SubClassOf 'gene with protein product' + 'nitric oxide synthase 1 adaptor protein' SubClassOf 'has_chromosomal location' value "1q23.3" Class: http://www.orpha.net/ORDO/Orphanet_121567 Label(s): EPH receptor B2 + 'EPH receptor B2' SubClassOf 'has_chromosomal location' value "1p36.12" + 'EPH receptor B2' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' + 'EPH receptor B2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_437664 Label(s): RAD54 like + 'RAD54 like' SubClassOf 'candidate gene tested in' some 'Hereditary breast cancer' + 'RAD54 like' SubClassOf 'gene with protein product' + 'RAD54 like' SubClassOf 'has_chromosomal location' value "1p34.1" Class: http://www.orpha.net/ORDO/Orphanet_168165 Label(s): left-right determination factor 2 + 'left-right determination factor 2' SubClassOf 'has_chromosomal location' value "1q42.12" + 'left-right determination factor 2' SubClassOf 'gene with protein product' + 'left-right determination factor 2' SubClassOf 'major susceptibility factor in' some 'Situs ambiguus' Class: http://www.orpha.net/ORDO/Orphanet_121360 Label(s): ankyrin 2 + 'ankyrin 2' SubClassOf 'gene with protein product' + 'ankyrin 2' SubClassOf 'has_chromosomal location' value "4q25-q26" + 'ankyrin 2' SubClassOf 'disease-causing germline mutation(s) (loss of function) in' some 'Romano-Ward syndrome' Class: http://www.orpha.net/ORDO/Orphanet_218358 Label(s): syntrophin alpha 1 + 'syntrophin alpha 1' SubClassOf 'disease-causing germline mutation(s) (gain of function) in' some 'Romano-Ward syndrome' + 'syntrophin alpha 1' SubClassOf 'gene with protein product' + 'syntrophin alpha 1' SubClassOf 'has_chromosomal location' value "20q11.21" Class: http://www.orpha.net/ORDO/Orphanet_297634 Label(s): macrophage scavenger receptor 1 + 'macrophage scavenger receptor 1' SubClassOf 'has_chromosomal location' value "8p22" + 'macrophage scavenger receptor 1' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' + 'macrophage scavenger receptor 1' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_292052 Label(s): homeobox B13 + 'homeobox B13' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' + 'homeobox B13' SubClassOf 'gene with protein product' + 'homeobox B13' SubClassOf 'has_chromosomal location' value "17q21.32" Class: http://www.orpha.net/ORDO/Orphanet_239896 Label(s): paraoxonase 3 + 'paraoxonase 3' SubClassOf 'has_chromosomal location' value "7q21.3" + 'paraoxonase 3' SubClassOf 'gene with protein product' + 'paraoxonase 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' Class: http://www.orpha.net/ORDO/Orphanet_239894 Label(s): paraoxonase 2 + 'paraoxonase 2' SubClassOf 'has_chromosomal location' value "7q21.3" + 'paraoxonase 2' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'paraoxonase 2' SubClassOf 'gene with protein product' Class: http://www.orpha.net/ORDO/Orphanet_239891 Label(s): paraoxonase 1 + 'paraoxonase 1' SubClassOf 'disease-causing germline mutation(s) in' some 'Amyotrophic lateral sclerosis' + 'paraoxonase 1' SubClassOf 'gene with protein product' + 'paraoxonase 1' SubClassOf 'has_chromosomal location' value "7q21.3" Class: http://www.orpha.net/ORDO/Orphanet_573010 Label(s): upstream transcription factor family member 3 + 'upstream transcription factor family member 3' SubClassOf 'disease-causing germline mutation(s) in' some 'Cowden syndrome' + 'upstream transcription factor family member 3' SubClassOf 'gene with protein product' + 'upstream transcription factor family member 3' SubClassOf 'has_chromosomal location' value "3q13.2" Class: http://www.orpha.net/ORDO/Orphanet_118344 Label(s): ribonuclease L + 'ribonuclease L' SubClassOf 'has_chromosomal location' value "1q25.3" + 'ribonuclease L' SubClassOf 'gene with protein product' + 'ribonuclease L' SubClassOf 'major susceptibility factor in' some 'Familial prostate cancer' Class: http://www.orpha.net/ORDO/Orphanet_363670 Label(s): PPARG coactivator 1 alpha + 'PPARG coactivator 1 alpha' SubClassOf 'has_chromosomal location' value "4p15.2" + 'PPARG coactivator 1 alpha' SubClassOf 'gene with protein product' + 'PPARG coactivator 1 alpha' SubClassOf 'modifying germline mutation in' some 'Amyotrophic lateral sclerosis'