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CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
506203
Orphanet classification of rare transplant-related disorders
565779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565779
Rare disorder potentially indicated for transplant or complication after transplantation
Category
90053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053
Complications after hematopoietic stem cell transplantation
Particular clinical situation in a disease or syndrome
306644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644
Complication after organ transplantation
Particular clinical situation in a disease or syndrome
90073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073
Hepatitis B reinfection following liver transplantation
Particular clinical situation in a disease or syndrome
163921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921
Posttransplant acute limbic encephalitis
Particular clinical situation in a disease or syndrome
633124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124
Invasive scopulariopsis infection
Disease
506207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506207
Rare disorder potentially indicated for transplant
Category
506225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506225
Rare disorder potentially indicated for heart transplant
Category
565612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612
Primary triglyceride deposit cardiomyovasculopathy
Disease
247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247
Inherited arrhythmogenic cardiomyopathy
Clinical group
34217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217
Naxos disease
Disease
217656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656
Inherited isolated arrhythmogenic cardiomyopathy
Disease
293910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Clinical subtype
293899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Clinical subtype
293888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Clinical subtype
371176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176
Congenital disorder of glycosylation with dilated cardiomyopathy
Category
91131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131
DK1-CDG
Disease
206554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554
Fukutin-related limb-girdle muscular dystrophy R13
Disease
263494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494
DPM3-CDG
Disease
319646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646
PGM1-CDG
Disease
300751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Disease
217616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Category
99901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901
Acyl-CoA dehydrogenase 9 deficiency
Disease
158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158
Systemic primary carnitine deficiency
Disease
217613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613
Mitochondrial disease with dilated cardiomyopathy
Category
99718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718
Leber plus disease
Disease
137675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675
Histiocytoid cardiomyopathy
Disease
550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
MELAS
Disease
551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551
MERRF
Disease
111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
Barth syndrome
Disease
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
217610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610
Neuromuscular disease with dilated cardiomyopathy
Category
262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262
Duchenne and Becker muscular dystrophy
Clinical group
98895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895
Becker muscular dystrophy
Disease
98896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896
Duchenne muscular dystrophy
Disease
206546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Disease
62
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Disease
261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261
Emery-Dreifuss muscular dystrophy
Disease
98853
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853
Autosomal dominant Emery-Dreifuss muscular dystrophy
Etiological subtype
98863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863
X-linked Emery-Dreifuss muscular dystrophy
Etiological subtype
98855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855
Autosomal recessive Emery-Dreifuss muscular dystrophy
Etiological subtype
119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Disease
353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Disease
98909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909
Desminopathy
Disease
219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Disease
289377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377
Early-onset myopathy with fatal cardiomyopathy
Disease
397937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937
Polyglucosan body myopathy type 1
Disease
206554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554
Fukutin-related limb-girdle muscular dystrophy R13
Disease
324767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767
Non-familial rare disease with dilated cardiomyopathy
Category
183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183
Eosinophilic granulomatosis with polyangiitis
Disease
2119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119
HEC syndrome
Malformation syndrome
563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563
Peripartum cardiomyopathy
Disease
217619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619
Syndrome associated with dilated cardiomyopathy
Category
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
73224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224
Kidney tubulopathy-dilated cardiomyopathy syndrome
Disease
168796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796
Heart-hand syndrome, Slovenian type
Malformation syndrome
2229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Malformation syndrome
2515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515
Microcephaly-cardiomyopathy syndrome
Malformation syndrome
217622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622
Sensorineural deafness with dilated cardiomyopathy
Disease
79159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159
Isobutyryl-CoA dehydrogenase deficiency
Disease
476096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096
Erythrokeratodermia-cardiomyopathy syndrome
Disease
1345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345
Cardiomyopathy-cataract-hip spine disease syndrome
Disease
1606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606
1p36 deletion syndrome
Malformation syndrome
65282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282
Carvajal syndrome
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
59306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306
McLeod neuroacanthocytosis syndrome
Disease
66634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634
Dilated cardiomyopathy with ataxia
Disease
2663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663
Nathalie syndrome
Malformation syndrome
217569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569
Rare hypertrophic cardiomyopathy
Category
99739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739
Rare familial disorder with hypertrophic cardiomyopathy
Category
217581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581
Lysosomal disease with hypertrophic cardiomyopathy
Category
349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349
Fucosidosis
Disease
365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Glycogen storage disease due to acid maltase deficiency
Disease
308552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Clinical subtype
420429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118
Beta-mannosidosis
Disease
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
217572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572
Glycogen storage disease with hypertrophic cardiomyopathy
Category
34587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587
Glycogen storage disease due to LAMP-2 deficiency
Disease
366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366
Glycogen storage disease due to glycogen debranching enzyme deficiency
Disease
137625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Disease
439854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Disease
365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Glycogen storage disease due to acid maltase deficiency
Disease
308552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Clinical subtype
420429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Clinical subtype
217587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587
Mitochondrial disease with hypertrophic cardiomyopathy
Category
369913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913
Combined oxidative phosphorylation defect type 17
Disease
444013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013
Combined oxidative phosphorylation defect type 23
Disease
352563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Disease
1349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349
Mitochondrial DNA-related cardiomyopathy and hearing loss
Malformation syndrome
570491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491
QRSL1-related combined oxidative phosphorylation defect
Disease
551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551
MERRF
Disease
1369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Disease
496790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Disease
550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
MELAS
Disease
99718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718
Leber plus disease
Disease
319678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Disease
314637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Disease
324525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Disease
457185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Disease
217591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Category
746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746
Mitochondrial trifunctional protein deficiency
Disease
26793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793
Very long chain acyl-CoA dehydrogenase deficiency
Disease
99901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901
Acyl-CoA dehydrogenase 9 deficiency
Disease
159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159
Carnitine-acylcarnitine translocase deficiency
Disease
5
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease
26791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791
Multiple acyl-CoA dehydrogenase deficiency
Disease
394532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532
Multiple acyl-CoA dehydrogenase deficiency, mild type
Clinical subtype
394529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Clinical subtype
217595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595
Syndrome associated with hypertrophic cardiomyopathy
Category
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
98909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909
Desminopathy
Disease
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
363972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Malformation syndrome
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
95
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95
Friedreich ataxia
Disease
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
91130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Disease
228012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Disease
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
399058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058
Alpha-B crystallin-related late-onset myopathy
Disease
273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
Steinert myotonic dystrophy
Disease
589824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824
Childhood-onset Steinert myotonic dystrophy
Clinical subtype
589827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827
Juvenile-onset Steinert myotonic dystrophy
Clinical subtype
589830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830
Adult-onset Steinert myotonic dystrophy
Clinical subtype
589833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833
Late-onset Steinert myotonic dystrophy
Clinical subtype
589821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821
Congenital-onset Steinert myotonic dystrophy
Clinical subtype
217598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598
Non-familial hypertrophic cardiomyopathy
Category
1926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926
Diabetic embryopathy
Malformation syndrome
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
57777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57777
Cirrhotic cardiomyopathy
Disease
85451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451
ATTRV122I amyloidosis
Disease
75249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249
Familial isolated restrictive cardiomyopathy
Disease
217638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638
Lysosomal disease with restrictive cardiomyopathy
Category
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365
Glycogen storage disease due to acid maltase deficiency
Disease
308552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Clinical subtype
420429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Clinical subtype
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154
Familial isolated dilated cardiomyopathy
Disease
367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367
Glycogen storage disease due to glycogen branching enzyme deficiency
Disease
206583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583
Adult polyglucosan body disease
Clinical subtype
308712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Clinical subtype
308670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Clinical subtype
308698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Clinical subtype
308655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Clinical subtype
308621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Clinical subtype
308638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Clinical subtype
308684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Clinical subtype
2022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022
Endocardial fibroelastosis
Disease
506210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506210
Rare disorder potentially indicated for liver transplant
Category
367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367
Glycogen storage disease due to glycogen branching enzyme deficiency
Disease
206583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583
Adult polyglucosan body disease
Clinical subtype
308712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Clinical subtype
308670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Clinical subtype
308698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Clinical subtype
308655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Clinical subtype
308621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Clinical subtype
308638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Clinical subtype
308684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Clinical subtype
562639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Disease
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
60
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60
Alpha-1-antitrypsin deficiency
Disease
2137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137
Autoimmune hepatitis
Disease
563576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576
Autoimmune hepatitis type 1
Clinical subtype
563581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581
Autoimmune hepatitis type 2
Clinical subtype
563589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589
Seronegative autoimmune hepatitis
Clinical subtype
30391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391
Isolated biliary atresia
Morphological anomaly
244283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283
Biliary atresia with splenic malformation syndrome
Malformation syndrome
131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131
Budd-Chiari syndrome
Disease
53035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035
Caroli disease
Malformation syndrome
480520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520
Caroli syndrome
Malformation syndrome
480501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501
Choledochal cyst
Morphological anomaly
95507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507
Congenital anomaly of hepatic vein
Morphological anomaly
480531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531
Congenital portosystemic shunt
Morphological anomaly
205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205
Crigler-Najjar syndrome
Disease
79234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234
Crigler-Najjar syndrome type 1
Clinical subtype
79235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235
Crigler-Najjar syndrome type 2
Clinical subtype
586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586
Cystic fibrosis
Disease
284385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385
Familial intrahepatic cholestasis
Category
65682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682
Benign recurrent intrahepatic cholestasis
Disease
99961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961
Benign recurrent intrahepatic cholestasis type 2
Clinical subtype
99960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960
Benign recurrent intrahepatic cholestasis type 1
Clinical subtype
172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172
Progressive familial intrahepatic cholestasis
Disease
480483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483
Progressive familial intrahepatic cholestasis type 4
Clinical subtype
480491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491
MYO5B-related progressive familial intrahepatic cholestasis
Clinical subtype
79304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304
Progressive familial intrahepatic cholestasis type 2
Clinical subtype
79305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305
Progressive familial intrahepatic cholestasis type 3
Clinical subtype
79306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306
Progressive familial intrahepatic cholestasis type 1
Clinical subtype
168583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583
Hereditary North American Indian childhood cirrhosis
Clinical subtype
480476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476
Progressive familial intrahepatic cholestasis type 5
Clinical subtype
163631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631
Bile acid synthesis defect with cholestasis and malabsorption
Category
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
276066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066
Bile acid CoA ligase deficiency and defective amidation
Disease
238475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475
Familial hypercholanemia
Disease
485631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631
Congenital bile acid synthesis defect
Clinical group
79095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095
Congenital bile acid synthesis defect type 4
Disease
79301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301
Congenital bile acid synthesis defect type 1
Disease
79302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302
Congenital bile acid synthesis defect type 3
Disease
79303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303
Congenital bile acid synthesis defect type 2
Disease
35063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063
Fulminant viral hepatitis
Disease
364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364
Glycogen storage disease due to glucose-6-phosphatase deficiency
Disease
79258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Clinical subtype
79259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Clinical subtype
890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890
Hepatic veno-occlusive disease
Disease
469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Hereditary fructose intolerance
Disease
480512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512
Idiopathic ductopenia
Disease
485426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426
Isolated congenital hepatic fibrosis
Disease
2924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924
Isolated polycystic liver disease
Malformation syndrome
446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446
Neonatal hemochromatosis
Disease
48372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372
Nodular regenerative hyperplasia of the liver
Histopathological subtype
220489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489
Rare hereditary hemochromatosis
Category
465508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508
Symptomatic form of HFE-related hemochromatosis
Disease
648569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569
Non-HFE-related hemochromatosis
Clinical group
79230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230
HJV or HAMP-related hemochromatosis
Disease
225123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123
TFR2-related hemochromatosis
Disease
647834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834
SLC40A1-related hemochromatosis
Disease
648581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581
Digenic hemochromatosis
Disease
447771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771
Sclerosing cholangitis
Clinical group
171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171
Primary sclerosing cholangitis
Disease
59303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303
Neonatal ichthyosis-sclerosing cholangitis syndrome
Disease
480556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556
Isolated neonatal sclerosing cholangitis
Disease
447774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774
Secondary sclerosing cholangitis
Disease
447764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764
IgG4-related sclerosing cholangitis
Clinical subtype
882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Tyrosinemia type 1
Disease
905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905
Wilson disease
Disease
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
2031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Malformation syndrome
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
158061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061
Macrophage activation syndrome
Clinical syndrome
186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186
Primary biliary cholangitis
Disease
69
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69
Amyloidosis
Category
85445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445
AA amyloidosis
Disease
85448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448
AGel amyloidosis
Disease
330001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001
Wild type ATTR amyloidosis
Disease
439224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224
ALECT2 amyloidosis
Disease
439232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232
AApoAIV amyloidosis
Disease
442582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582
AH amyloidosis
Disease
85458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458
Hereditary cerebral hemorrhage with amyloidosis
Disease
324723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723
ABeta amyloidosis, Arctic type
Clinical subtype
100006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006
ABeta amyloidosis, Dutch type
Clinical subtype
100008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008
ACys amyloidosis
Clinical subtype
324718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718
ABetaA21G amyloidosis
Clinical subtype
324703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703
ABetaL34V amyloidosis
Clinical subtype
324708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708
ABeta amyloidosis, Iowa type
Clinical subtype
324713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713
ABeta amyloidosis, Italian type
Clinical subtype
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
85450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450
Hereditary amyloidosis with primary renal involvement
Disease
93560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560
AApoAI amyloidosis
Clinical subtype
93561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561
ALys amyloidosis
Clinical subtype
238269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269
AApoAII amyloidosis
Clinical subtype
93562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562
AFib amyloidosis
Clinical subtype
439246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439246
ABeta2M amyloidosis
Clinical group
85446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446
Wild type ABeta2M amyloidosis
Disease
314652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652
Variant ABeta2M amyloidosis
Disease
439254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254
ITM2B amyloidosis
Disease
97345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345
ABri amyloidosis
Clinical subtype
97346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346
ADan amyloidosis
Clinical subtype
271861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861
Hereditary ATTR amyloidosis
Clinical group
85447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447
ATTRV30M amyloidosis
Disease
85451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451
ATTRV122I amyloidosis
Disease
300345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345
Autosomal systemic lupus erythematosus
Disease
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
306633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306633
Rare tumor of gallbladder and extrahepatic biliary tract
Category
56044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044
Carcinoma of gallbladder and extrahepatic biliary tract
Clinical group
70567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567
Cholangiocarcinoma
Disease
424996
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Disease
99978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978
Klatskin tumor
Disease
424991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Disease
529852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852
Combined hepatocellular carcinoma and cholangiocarcinoma
Disease
100086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086
Gallbladder neuroendocrine tumor
Disease
306636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306636
Rare tumor of liver and intrahepatic biliary tract
Category
386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386
Hepatic cystic hamartoma
Disease
100035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035
Solitary necrotic nodule of the liver
Disease
178315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315
Undifferentiated embryonal sarcoma of the liver
Disease
449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449
Hepatoblastoma
Disease
54272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272
Hepatocellular adenoma
Disease
424933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933
Rare malignant epithelial tumor of liver and intrahepatic biliary tract
Category
424936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936
Carcinoma of liver and intrahepatic biliary tract
Category
424943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943
Adenocarcinoma of the liver and intrahepatic biliary tract
Disease
424975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975
Squamous cell carcinoma of liver and intrahepatic biliary tract
Disease
424982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982
Biliary cystadenocarcinoma
Disease
70567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567
Cholangiocarcinoma
Disease
401920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920
Fibrolamellar hepatocellular carcinoma
Disease
424970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Disease
529852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852
Combined hepatocellular carcinoma and cholangiocarcinoma
Disease
88673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673
Hepatocellular carcinoma
Clinical group
33402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402
Pediatric hepatocellular carcinoma
Disease
210159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159
Adult hepatocellular carcinoma
Disease
100085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085
Primary hepatic neuroendocrine carcinoma
Disease
566841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841
Liver adenomatosis
Disease
618899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899
Acid sphingomyelinase deficiency
Clinical group
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
506213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506213
Rare disorder potentially indicated for kidney transplant
Category
93605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605
Bartter syndrome type 3
Clinical subtype
320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320
Apparent mineralocorticoid excess
Disease
88659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659
Autosomal dominant progressive nephropathy with hypertension
Disease
88660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Disease
306516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Disease
2196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Clinical subtype
31043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Clinical subtype
416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416
Primary hyperoxaluria
Disease
93600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600
Primary hyperoxaluria type 3
Clinical subtype
93599
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599
Primary hyperoxaluria type 2
Clinical subtype
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
217071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071
Renal cell carcinoma
Clinical group
319303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303
Chromophobe renal cell carcinoma
Disease
404514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514
Acquired cystic disease-associated renal cell carcinoma
Disease
247203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203
Collecting duct carcinoma
Disease
319308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308
MiT family translocation renal cell carcinoma
Disease
319319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319
Renal medullary carcinoma
Disease
319276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276
Clear cell renal carcinoma
Disease
319287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287
Multilocular cystic renal neoplasm of low malignant potential
Histopathological subtype
404511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511
Clear cell papillary renal cell carcinoma
Histopathological subtype
319322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322
Mucinous tubular and spindle cell renal carcinoma
Disease
319298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298
Papillary renal cell carcinoma
Disease
319325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325
Tubulocystic renal cell carcinoma
Disease
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
363534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Disease
534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534
Oculocerebrorenal syndrome of Lowe
Malformation syndrome
140969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Saldino-Mainzer syndrome
Disease
637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637
Full NF2-related schwannomatosis
Disease
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
140976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976
RHYNS syndrome
Disease
1770
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770
XY type gonadal dysgenesis-associated anomalies syndrome
Malformation syndrome
976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976
Adenine phosphoribosyltransferase deficiency
Disease
2665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665
Congenital mesoblastic nephroma
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526
Liddle syndrome
Disease
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
220497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Joubert syndrome with renal defect
Malformation syndrome
401996
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996
Karyomegalic interstitial nephritis
Disease
650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
LCAT deficiency
Disease
79292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
Fish-eye disease
Clinical subtype
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
97366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366
Multiloculated renal cyst
Morphological anomaly
654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654
Nephroblastoma
Disease
655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655
Nephronophthisis
Disease
93592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592
Juvenile nephronophthisis
Clinical subtype
93589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589
Late-onset nephronophthisis
Clinical subtype
93591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591
Infantile nephronophthisis
Clinical subtype
235936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936
Familial hyperaldosteronism
Clinical group
251274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274
Familial hyperaldosteronism type III
Disease
642671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671
Familial hyperaldosteronism type IV
Disease
403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403
Familial hyperaldosteronism type I
Disease
404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Familial hyperaldosteronism type II
Disease
411634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634
Juvenile nephropathic cystinosis
Clinical subtype
411629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629
Infantile nephropathic cystinosis
Clinical subtype
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
443988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988
Ventriculomegaly-cystic kidney disease
Disease
93546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546
Non-syndromic renal or urinary tract malformation
Category
2260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260
Oligomeganephronia
Morphological anomaly
1851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851
Multicystic dysplastic kidney
Morphological anomaly
97363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363
Unilateral multicystic dysplastic kidney
Clinical subtype
97364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364
Bilateral multicystic dysplastic kidney
Clinical subtype
1309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309
Medullary sponge kidney
Morphological anomaly
93109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109
Congenital megacalycosis
Morphological anomaly
93176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176
Unilateral congenital megacalycosis
Clinical subtype
93177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177
Congenital bilateral megacalycosis
Clinical subtype
238637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637
Megacystis-megaureter syndrome
Disease
411709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709
Renal agenesis
Morphological anomaly
1848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848
Renal agenesis, bilateral
Clinical subtype
93100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100
Renal agenesis, unilateral
Clinical subtype
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
93108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108
Renal dysplasia
Morphological anomaly
93172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172
Renal dysplasia, unilateral
Clinical subtype
93173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173
Renal dysplasia, bilateral
Clinical subtype
289365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Familial vesicoureteral reflux
Malformation syndrome
3033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033
Renal tubular dysgenesis
Malformation syndrome
97368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368
Drug-related renal tubular dysgenesis
Etiological subtype
97369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369
Renal tubular dysgenesis of genetic origin
Etiological subtype
97367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367
Renal tubular dysgenesis due to twin-twin transfusion
Etiological subtype
237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Duplication of urethra
Morphological anomaly
435365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365
Fetal lower urinary tract obstruction
Clinical group
2970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Prune belly syndrome
Malformation syndrome
93110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Posterior urethral valve
Morphological anomaly
435372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372
Anterior urethral valve
Morphological anomaly
105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Atresia of urethra
Morphological anomaly
617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Congenital primary megaureter
Morphological anomaly
238642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
Primary megaureter, adult-onset form
Clinical subtype
238646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, obstructed form
Clinical subtype
238650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, refluxing form
Clinical subtype
238654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Congenital primary megaureter, nonrefluxing and unobstructed form
Clinical subtype
544578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578
Congenital primary megaureter, refluxing and obstructed form
Clinical subtype
93101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101
Renal hypoplasia
Morphological anomaly
97362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362
Renal hypoplasia, bilateral
Clinical subtype
97361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361
Renal hypoplasia, unilateral
Clinical subtype
435743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743
Congenital urachal anomaly
Category
431341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341
Patent urachus
Morphological anomaly
431344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344
Urachal sinus
Morphological anomaly
431347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347
Urachal diverticulum
Morphological anomaly
488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Urachal cyst
Morphological anomaly
652528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528
Non-syndromic supernumerary kidneys
Morphological anomaly
93547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547
Syndromic renal or urinary tract malformation
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
1834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Axial mesodermal dysplasia spectrum
Malformation syndrome
2186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186
Hydrocephalus-blue sclerae-nephropathy syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838
Renal caliceal diverticuli-deafness syndrome
Malformation syndrome
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
1973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973
Faciocardiorenal syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
1192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome
971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971
Acrorenal syndrome
Malformation syndrome
1765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Dyschondrosteosis-nephritis syndrome
Malformation syndrome
2111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111
Cystic hamartoma of lung and kidney
Disease
2241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Malformation syndrome
1475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Renal coloboma syndrome
Malformation syndrome
2774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Malformation syndrome
3411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411
Double uterus-hemivagina-renal agenesis syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
444069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
1133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
AREDYLD syndrome
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
2673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673
Neurofaciodigitorenal syndrome
Malformation syndrome
2704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704
Ochoa syndrome
Malformation syndrome
2820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820
Spastic paraplegia-nephritis-deafness syndrome
Clinical syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
2256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Malformation syndrome
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Malformation syndrome
3032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032
NPHP3-related Meckel-like syndrome
Malformation syndrome
3404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404
Ulbright-Hodes syndrome
Malformation syndrome
500095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095
Tall stature-intellectual disability-renal anomalies syndrome
Malformation syndrome
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
3326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326
Thymic-renal-anal-lung dysplasia
Malformation syndrome
71273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273
Renal nutcracker syndrome
Disease
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
3327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327
Thyrocerebrorenal syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186
Holoprosencephaly-radial heart renal anomalies syndrome
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
592574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574
Menke-Hennekam syndrome
Malformation syndrome
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
656130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Disease
294415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415
Renal-hepatic-pancreatic dysplasia
Malformation syndrome
3156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156
Senior-Loken syndrome
Disease
18
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18
Distal renal tubular acidosis
Disease
93608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608
Autosomal dominant distal renal tubular acidosis
Clinical subtype
93610
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610
Distal renal tubular acidosis with anemia
Clinical subtype
402041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041
Autosomal recessive distal renal tubular acidosis
Clinical subtype
84081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081
Senior-Boichis syndrome
Disease
528105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Disease
94088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088
Hereditary renal hypouricemia
Malformation syndrome
93921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921
Full schwannomatosis
Disease
730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730
Autosomal dominant polycystic kidney disease
Disease
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Jeune syndrome
Malformation syndrome
3337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337
Primary Fanconi renotubular syndrome
Disease
243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
46,XX gonadal dysgenesis
Malformation syndrome
2138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138
46,XX ovotesticular difference of sex development
Malformation syndrome
393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393
46,XX testicular difference of sex development
Malformation syndrome
242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242
46,XY complete gonadal dysgenesis
Malformation syndrome
325357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357
46,XY difference of sex development due to impaired androgen production
Category
755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755
Leydig cell hypoplasia
Disease
325448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448
Leydig cell hypoplasia due to LHB deficiency
Clinical subtype
96265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265
Leydig cell hypoplasia due to complete LH resistance
Clinical subtype
96266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266
Leydig cell hypoplasia due to partial LH resistance
Clinical subtype
90783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783
46,XY difference of sex development due to a testosterone synthesis defect
Category
90787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787
46,XY difference of sex development due to testicular steroidogenesis defect
Category
90796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Disease
752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Disease
325511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511
46,XY difference of sex development due to a cholesterol synthesis defect
Category
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
90786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786
46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
Category
168558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Disease
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
98086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086
46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
Category
753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Disease
443090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
Category
443087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Disease
325537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
Category
168563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Malformation syndrome
325345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345
46,XY ovotesticular difference of sex development
Disease
251510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
46,XY partial gonadal dysgenesis
Malformation syndrome
165704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704
Non-syndromic urogenital tract malformation
Category
182117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117
Non-syndromic urogenital tract malformation of female
Category
180065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065
Non-syndromic uterovaginal malformation
Category
73217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217
Müllerian aplasia
Clinical group
180068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068
Partial bilateral aplasia of the Müllerian ducts
Clinical group
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
247768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Müllerian aplasia and hyperandrogenism
Malformation syndrome
180071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071
Unilateral aplasia of the Müllerian ducts
Clinical group
180074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074
True unicornuate uterus
Morphological anomaly
180079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079
Pseudounicornuate uterus
Morphological anomaly
180122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122
Septate uterus
Clinical group
180126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126
Complete septate uterus
Morphological anomaly
180129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129
Partial septate uterus
Morphological anomaly
180134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134
Bicornuate uterus
Clinical group
180086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086
Didelphys uterus
Morphological anomaly
180106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106
Bicervical bicornuate uterus and blind hemivagina
Clinical subtype
180111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111
Bicervical bicornuate uterus with patent cervix and vagina
Clinical subtype
180114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114
Unicervical bicornuate uterus
Morphological anomaly
180139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139
Uterine hypoplasia
Morphological anomaly
180142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142
Absence of uterine body
Morphological anomaly
180145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145
Uterine cervical aplasia and agenesis
Morphological anomaly
1916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916
Diethylstilbestrol syndrome
Malformation syndrome
180151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151
Rare vaginal malformation
Category
65681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681
Vaginal atresia
Morphological anomaly
96269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269
Isolated partial vaginal agenesis
Morphological anomaly
180154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154
Septate vagina
Morphological anomaly
180160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160
Transverse vaginal septum
Clinical subtype
180157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157
Longitudinal vaginal septum
Clinical subtype
603515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515
Isolated female hypospadias
Morphological anomaly
182121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121
Non-syndromic urogenital tract malformation of male
Category
49
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49
Penile agenesis
Morphological anomaly
95707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707
Idiopathic isolated micropenis
Morphological anomaly
495879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879
Congenital agenesis of the scrotum
Morphological anomaly
95706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706
Non-syndromic posterior hypospadias
Morphological anomaly
227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227
Diphallia
Morphological anomaly
48
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48
Congenital bilateral absence of vas deferens
Morphological anomaly
2842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842
Penoscrotal transposition
Morphological anomaly
182124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124
Non-syndromic urogenital tract malformation of male and female
Category
435743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743
Congenital urachal anomaly
Category
431341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341
Patent urachus
Morphological anomaly
431344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344
Urachal sinus
Morphological anomaly
431347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347
Urachal diverticulum
Morphological anomaly
488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Urachal cyst
Morphological anomaly
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
435365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365
Fetal lower urinary tract obstruction
Clinical group
2970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Prune belly syndrome
Malformation syndrome
93110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Posterior urethral valve
Morphological anomaly
435372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372
Anterior urethral valve
Morphological anomaly
105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Atresia of urethra
Morphological anomaly
237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Duplication of urethra
Morphological anomaly
617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Congenital primary megaureter
Morphological anomaly
238642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
Primary megaureter, adult-onset form
Clinical subtype
238646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, obstructed form
Clinical subtype
238650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, refluxing form
Clinical subtype
238654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Congenital primary megaureter, nonrefluxing and unobstructed form
Clinical subtype
544578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578
Congenital primary megaureter, refluxing and obstructed form
Clinical subtype
289365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Familial vesicoureteral reflux
Malformation syndrome
91136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Disease
2666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666
Adult familial nephronophthisis-spastic quadriparesia syndrome
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
1031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031
Enamel-renal syndrome
Malformation syndrome
34149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149
Autosomal dominant tubulointerstitial kidney disease
Disease
88949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949
MUC1-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
88950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950
UMOD-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
217330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330
REN-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
88924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Disease
300547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547
Autosomal recessive infantile hypercalcemia
Disease
731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731
Autosomal recessive polycystic kidney disease
Disease
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
89938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938
Bartter syndrome type 4
Clinical subtype
1380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380
Cataract-nephropathy-encephalopathy syndrome
Malformation syndrome
457246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246
Clear cell sarcoma of kidney
Disease
97598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598
Congenital renal artery stenosis
Disease
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214
Cystinuria
Disease
93612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612
Cystinuria type A
Etiological subtype
93613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613
Cystinuria type B
Etiological subtype
1652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Dent disease
Disease
93623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Dent disease type 2
Clinical subtype
93622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
Dent disease type 1
Clinical subtype
244305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Disease
1276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Brachydactyly-arterial hypertension syndrome
Malformation syndrome
757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757
Pseudohypoaldosteronism type 2
Disease
300525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525
Pseudohypoaldosteronism type 2D
Etiological subtype
300530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530
Pseudohypoaldosteronism type 2E
Etiological subtype
88938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938
Pseudohypoaldosteronism type 2A
Etiological subtype
88939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939
Pseudohypoaldosteronism type 2B
Etiological subtype
88940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940
Pseudohypoaldosteronism type 2C
Etiological subtype
404476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Malformation syndrome
2031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Malformation syndrome
363694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Disease
238517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517
Hypotonia-cystinuria type 1 syndrome
Clinical group
163690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690
Hypotonia-cystinuria syndrome
Disease
163693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693
2p21 microdeletion syndrome
Disease
238523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523
Atypical hypotonia-cystinuria syndrome
Disease
206428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Clinical group
510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510
Lesch-Nyhan syndrome
Disease
79233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Disease
2197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197
Idiopathic hypercalciuria
Disease
54057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057
Thrombotic thrombocytopenic purpura
Disease
93585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585
Immune-mediated thrombotic thrombocytopenic purpura
Clinical subtype
93583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583
Congenital thrombotic thrombocytopenic purpura
Clinical subtype
424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424
Familial hyperthyroidism due to mutations in TSH receptor
Disease
544458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544458
Hemolytic uremic syndrome
Clinical group
544482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482
Infection-related hemolytic uremic syndrome
Disease
90038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038
Shiga toxin-associated hemolytic uremic syndrome
Clinical subtype
544493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493
Streptococcus pneumoniae-associated hemolytic uremic syndrome
Clinical subtype
2134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134
Atypical hemolytic uremic syndrome
Disease
93581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Etiological subtype
544472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472
Atypical hemolytic uremic syndrome with complement gene abnormality
Etiological subtype
357008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008
Hemolytic uremic syndrome with DGKE deficiency
Disease
79282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282
Methylmalonic acidemia with homocystinuria, type cblC
Clinical subtype
882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882
Tyrosinemia type 1
Disease
28
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28
Vitamin B12-responsive methylmalonic acidemia
Disease
308442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Clinical subtype
79310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310
Vitamin B12-responsive methylmalonic acidemia type cblA
Clinical subtype
79311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311
Vitamin B12-responsive methylmalonic acidemia type cblB
Clinical subtype
27
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27
Vitamin B12-unresponsive methylmalonic acidemia
Disease
289916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Clinical subtype
79312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Clinical subtype
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
544628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Disease
93548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93548
Glomerular disease
Category
34145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34145
Immunoglobulin A nephropathy
Disease
544590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590
Collagen-related glomerular basement membrane disease
Category
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
73229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229
HANAC syndrome
Disease
567554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567554
Systemic disease with glomerulopathy as a major feature
Category
567556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556
Genetic systemic disease with glomerulopathy as a major feature
Category
85450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450
Hereditary amyloidosis with primary renal involvement
Disease
93560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560
AApoAI amyloidosis
Clinical subtype
93561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561
ALys amyloidosis
Clinical subtype
238269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269
AApoAII amyloidosis
Clinical subtype
93562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562
AFib amyloidosis
Clinical subtype
329481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481
Lipoprotein glomerulopathy
Disease
444092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092
Autoimmune interstitial lung disease-arthritis syndrome
Disease
342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342
Familial Mediterranean fever
Disease
575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575
Muckle-Wells syndrome
Disease
36412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412
Hypocomplementemic urticarial vasculitis
Disease
84090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090
Fibronectin glomerulopathy
Disease
567558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567558
Non-genetic systemic disease with glomerulopathy as a major feature
Category
732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732
Polymyositis
Disease
93568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568
Juvenile polymyositis
Disease
221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221
Dermatomyositis
Disease
645617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617
Amyopathic dermatomyositis
Clinical subtype
645626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626
Adermatopathic dermatomyositis
Clinical subtype
645613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613
Classical dermatomyositis
Clinical subtype
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
90291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291
Systemic sclerosis
Disease
220402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402
Limited cutaneous systemic sclerosis
Clinical subtype
220407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407
Limited systemic sclerosis
Clinical subtype
220393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393
Diffuse cutaneous systemic sclerosis
Clinical subtype
85445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445
AA amyloidosis
Disease
449395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395
IgG4-related kidney disease
Clinical subtype
809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809
Mixed connective tissue disease
Disease
829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829
Adult-onset Still disease
Disease
779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779
Reynolds syndrome
Disease
439232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232
AApoAIV amyloidosis
Disease
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
442582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582
AH amyloidosis
Disease
86861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861
Non-amyloid monoclonal immunoglobulin deposition disease
Disease
93556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556
Heavy chain deposition disease
Clinical subtype
93557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557
Light and heavy chain deposition disease
Clinical subtype
93558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558
Light chain deposition disease
Clinical subtype
91137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137
Immunotactoid or fibrillary glomerulopathy
Clinical group
97566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566
Non-amyloid fibrillary glomerulopathy
Disease
97567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567
Immunotactoid glomerulopathy
Disease
84087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087
Collagen type III glomerulopathy
Disease
567560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567560
Systemic vasculitis associated with glomerulopathy
Category
536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536
Systemic lupus erythematosus
Disease
183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183
Eosinophilic granulomatosis with polyangiitis
Disease
728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728
Relapsing polychondritis
Disease
397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397
Giant cell arteritis
Disease
727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727
Microscopic polyangiitis
Disease
761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761
Immunoglobulin A vasculitis
Disease
767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767
Polyarteritis nodosa
Disease
439746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746
Secondary polyarteritis nodosa
Clinical subtype
439737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737
Primary polyarteritis nodosa
Clinical subtype
439729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729
Cutaneous polyarteritis nodosa
Clinical subtype
439762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762
Systemic polyarteritis nodosa
Clinical subtype
439755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755
Single-organ polyarteritis nodosa
Clinical subtype
900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900
Granulomatosis with polyangiitis
Disease
3287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287
Takayasu arteritis
Disease
93126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126
Pauci-immune glomerulonephritis
Disease
97564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564
Pauci-immune glomerulonephritis without ANCA
Clinical subtype
97563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563
Pauci-immune glomerulonephritis with ANCA
Clinical subtype
375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375
Anti-glomerular basement membrane disease
Disease
91138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138
Cryoglobulinemic vasculitis
Disease
93555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555
Mixed cryoglobulinemia type III
Etiological subtype
93554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554
Mixed cryoglobulinemia type II
Etiological subtype
36258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258
Buerger disease
Disease
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
567564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564
Nephrotic syndrome without extrarenal manifestations
Category
564127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127
Genetic nephrotic syndrome
Clinical group
656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656
Genetic steroid-resistant nephrotic syndrome
Disease
839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839
Congenital nephrotic syndrome, Finnish type
Disease
357502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502
Idiopathic nephrotic syndrome
Clinical group
567548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548
Idiopathic steroid-resistant nephrotic syndrome
Clinical syndrome
567550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550
Idiopathic multidrug-resistant nephrotic syndrome
Clinical subtype
567552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Clinical subtype
567546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Clinical syndrome
69061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061
Idiopathic steroid-sensitive nephrotic syndrome
Clinical syndrome
567544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544
Idiopathic non-lupus full-house nephropathy
Clinical syndrome
567562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562
Disorder with multisystemic involvement and glomerulopathy
Category
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
1830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Schimke immuno-osseous dysplasia
Disease
2065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065
Galloway-Mowat syndrome
Malformation syndrome
2613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613
Nail-patella-like renal disease
Disease
2670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670
Pierson syndrome
Malformation syndrome
2715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715
Severe oculo-renal-cerebellar syndrome
Malformation syndrome
220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Denys-Drash syndrome
Disease
347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Frasier syndrome
Disease
300333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Disease
306504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease
69063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Disease
69735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease
93114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Disease
280406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Disease
506334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Disease
163696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696
Action myoclonus-renal failure syndrome
Disease
182050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050
MYH9-related disease
Disease
97560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560
Primary membranous glomerulonephritis
Disease
54370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370
Primary membranoproliferative glomerulonephritis
Disease
329903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Clinical subtype
329918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918
C3 glomerulopathy
Clinical subtype
93571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571
Dense deposit disease
Histopathological subtype
329931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931
C3 glomerulonephritis
Histopathological subtype
620371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Disease
620217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217
Bartter syndrome type 1
Clinical subtype
620220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220
Bartter syndrome type 2
Clinical subtype
506216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506216
Rare disorder potentially indicated for bowel transplant
Category
294422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422
Chronic intestinal failure
Clinical syndrome
104007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007
Congenital enteropathy involving intestinal mucosa development
Category
2290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290
Microvillus inclusion disease
Disease
83620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620
Enteric anendocrinosis
Disease
92050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050
Congenital tufting enteropathy
Disease
103910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910
Congenital enterocyte heparan sulfate deficiency
Disease
313906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906
Congenital pancreatic cyst
Morphological anomaly
468635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635
Cryptogenic multifocal ulcerous stenosing enteritis
Disease
104010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010
Intestinal polyposis syndrome
Clinical group
733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733
Familial adenomatous polyposis
Disease
261584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584
Familial adenomatous polyposis due to 5q22.2 microdeletion
Etiological subtype
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
99818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818
Turcot syndrome with polyposis
Clinical subtype
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
2929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929
Juvenile polyposis syndrome
Disease
329971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971
Generalized juvenile polyposis/juvenile polyposis coli
Clinical subtype
79076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076
Juvenile polyposis of infancy
Clinical subtype
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
2930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930
Cronkhite-Canada syndrome
Disease
157794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794
Hereditary mixed polyposis syndrome
Disease
157798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798
Serrated polyposis syndrome
Disease
220460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460
Attenuated familial adenomatous polyposis
Disease
247798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798
MUTYH-related attenuated familial adenomatous polyposis
Clinical subtype
247806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806
APC-related attenuated familial adenomatous polyposis
Clinical subtype
401911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911
AXIN2-related attenuated familial adenomatous polyposis
Clinical subtype
447877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877
Polymerase proofreading-related adenomatous polyposis
Clinical subtype
454840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840
NTHL1-related attenuated familial adenomatous polyposis
Clinical subtype
480536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536
MSH3-related attenuated familial adenomatous polyposis
Clinical subtype
104009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009
Rare disease involving intestinal motility
Category
388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388
Hirschsprung disease
Disease
897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Waardenburg-Shah syndrome
Disease
1876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876
Oculogastrointestinal muscular dystrophy
Disease
2150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150
Hirschsprung disease-type D brachydactyly syndrome
Malformation syndrome
2153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Malformation syndrome
2155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Hirschsprung disease-deafness-polydactyly syndrome
Malformation syndrome
2241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Malformation syndrome
2978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978
Chronic intestinal pseudoobstruction
Clinical syndrome
99811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811
Neuronal intestinal pseudoobstruction
Etiological subtype
104077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077
Myopathic intestinal pseudoobstruction
Etiological subtype
104078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078
Unclassified intestinal pseudoobstruction
Etiological subtype
2151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151
Hirschsprung disease-ganglioneuroblastoma syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
99803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
Haddad syndrome
Malformation syndrome
163746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Disease
314373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Disease
314376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Disease
2604
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604
Familial visceral myopathy
Disease
104012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012
Rare inflammatory bowel disease
Category
566175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Disease
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
2881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881
Cutaneous photosensitivity-lethal colitis syndrome
Disease
103920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103920
Undetermined colitis
Disease
160148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148
Cap polyposis
Disease
294023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023
Neonatal inflammatory skin and bowel disease
Disease
477661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661
IL21-related infantile inflammatory bowel disease
Disease
529974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529974
Immune dysregulation with inflammatory bowel disease
Clinical group
529977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Disease
238569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Disease
529980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Disease
565788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788
Infantile inflammatory bowel disease with neurological involvement
Disease
391673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673
Necrotizing enterocolitis
Disease
538934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934
X-linked lymphoproliferative disease due to XIAP deficiency
Disease
597201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201
TRIM22-related inflammatory bowel disease
Disease
597887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887
ALPI-related inflammatory bowel disease
Disease
104011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011
Rare tumor of intestine
Category
423793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793
Rare tumor of small intestine
Category
423798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798
Mesenchymal tumor of small intestine
Category
44890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890
Gastrointestinal stromal tumor
Disease
104076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076
Leiomyosarcoma of small intestine
Disease
652658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658
Monomorphic epitheliotropic intestinal T-cell lymphoma
Disease
425368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368
Rare epithelial tumor of small intestine
Category
423975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975
Neuroendocrine tumor of the small intestine
Category
100077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077
Jejunal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
100078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078
Ileal neuroendocrine tumor
Disease
100076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076
Duodenal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
423957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957
Rare carcinoma of small intestine
Category
104075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075
Adenocarcinoma of the small intestine
Disease
423968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968
Squamous cell carcinoma of the small intestine
Disease
86880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880
Enteropathy-associated T-cell lymphoma
Disease
423982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982
Epithelial tumor of the appendix
Category
100079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079
Neuroendocrine neoplasm of appendix
Disease
329977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977
Classic neuroendocrine tumor of appendix
Clinical subtype
329984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984
Goblet cell carcinoma
Clinical subtype
391723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723
Mucinous adenocarcinoma of the appendix
Disease
423991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991
Rare epithelial tumor of colon
Category
423994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994
Squamous cell carcinoma of the colon
Disease
100080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080
Neuroendocrine tumor of the colon
Disease
423998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998
Rare epithelial tumor of rectum
Category
100081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081
Neuroendocrine tumor of the rectum
Disease
424002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002
Squamous cell carcinoma of the rectum
Disease
424010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010
Epithelial tumor of anal canal
Category
100082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082
Neuroendocrine tumor of anal canal
Disease
424013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013
Carcinoma of the anal canal
Clinical group
424016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016
Adenocarcinoma of the anal canal
Disease
424019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019
Squamous cell carcinoma of the anal canal
Disease
104008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008
Short bowel syndrome
Clinical group
95427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427
Secondary short bowel syndrome
Disease
365563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563
Primary short bowel syndrome
Clinical group
1201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201
Small bowel atresia
Morphological anomaly
2301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301
Congenital short bowel syndrome
Morphological anomaly
2368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368
Gastroschisis
Morphological anomaly
108971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971
Non-syndromic visceral malformation
Category
101351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351
Familial isolated congenital asplenia
Morphological anomaly
2040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040
Congenital respiratory-biliary fistula
Morphological anomaly
101063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063
Situs inversus totalis
Morphological anomaly
157769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769
Situs ambiguus
Morphological anomaly
457083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083
Isolated splenogonadal fusion
Morphological anomaly
53035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035
Caroli disease
Malformation syndrome
2805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805
Partial pancreatic agenesis
Morphological anomaly
675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675
Annular pancreas
Morphological anomaly
674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674
Accessory pancreas
Morphological anomaly
30391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391
Isolated biliary atresia
Morphological anomaly
168807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807
Primary malignant peritoneal tumor
Category
168829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829
Primary peritoneal carcinoma
Disease
83469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469
Desmoplastic small round cell tumor
Disease
168811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811
Malignant peritoneal mesothelioma
Disease
168816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816
Peritoneal cystic mesothelioma
Disease
104003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003
Congenital intestinal transport defect
Category
469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469
Hereditary fructose intolerance
Disease
35710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710
Glucose-galactose malabsorption
Disease
53689
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689
Congenital chloride diarrhea
Disease
103908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908
Congenital sodium diarrhea
Disease
563708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708
Syndromic congenital sodium diarrhea
Disease
73014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014
Intractable diarrhea of infancy
Category
2290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290
Microvillus inclusion disease
Disease
103908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908
Congenital sodium diarrhea
Disease
563708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708
Syndromic congenital sodium diarrhea
Disease
329242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242
Congenital chronic diarrhea with protein-losing enteropathy
Disease
1670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670
Chronic diarrhea with villous atrophy
Disease
92050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050
Congenital tufting enteropathy
Disease
137622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Malformation syndrome
522037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037
Primary autoimmune enteropathy
Disease
522043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043
Syndromic autoimmune enteropathy
Clinical group
37042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease
436159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Disease
391487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Disease
169100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100
Immunodeficiency due to CD25 deficiency
Disease
438159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159
STAT3-related early-onset multisystem autoimmune disease
Disease
220465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465
Laron syndrome with immunodeficiency
Disease
228426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Syndromic multisystem autoimmune disease due to Itch deficiency
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
445018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018
Combined immunodeficiency due to LRBA deficiency
Disease
84064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064
Syndromic diarrhea
Disease
96346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346
Anorectal malformation
Category
117573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573
Syndromic anorectal malformation
Category
1834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Axial mesodermal dysplasia spectrum
Malformation syndrome
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
96176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176
Ring chromosome 13 syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
1590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590
Distal deletion 13q
Malformation syndrome
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
96185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185
Maternal uniparental disomy of chromosome 16
Malformation syndrome
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
3412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412
VACTERL with hydrocephalus
Malformation syndrome
444941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941
Caudal regression-sirenomelia spectrum
Clinical group
3169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169
Sirenomelia
Malformation syndrome
1768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Familial caudal dysgenesis
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
2408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408
Lowe-Kohn-Cohen syndrome
Malformation syndrome
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
1436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
X-linked skeletal dysplasia-intellectual disability syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
2973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973
46,XX difference of sex development-anorectal anomalies syndrome
Malformation syndrome
75857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857
6q terminal deletion syndrome
Malformation syndrome
93271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Short rib-polydactyly syndrome, Verma-Naumoff type
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
1552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552
Currarino syndrome
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
2345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345
Isolated Klippel-Feil syndrome
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Tetrasomy 12p
Malformation syndrome
1225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Baller-Gerold syndrome
Malformation syndrome
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Malformation syndrome
1756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756
Caudal duplication
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
93932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932
FG syndrome type 1
Disease
496751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751
EVEN-plus syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
93270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Saldino-Noonan type
Malformation syndrome
557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557
Non-syndromic anorectal malformation
Clinical group
600952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952
Non-syndromic anorectal malformation with perineal fistula
Morphological anomaly
600961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961
Non-syndromic anorectal malformation with rectourethral fistula
Morphological anomaly
600966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966
Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
Clinical subtype
600975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975
Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
Clinical subtype
600984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984
Non-syndromic anorectal malformation with rectovesical fistula
Morphological anomaly
600993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993
Non-syndromic anorectal malformation with vestibular fistula
Morphological anomaly
600998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998
Non-syndromic cloacal malformation
Morphological anomaly
601002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002
Non-syndromic anorectal malformation without fistula
Morphological anomaly
601008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008
Non-syndromic anorectal malformation with anal stenosis
Morphological anomaly
601013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013
Non-syndromic anorectal malformation with pouch colon
Morphological anomaly
601018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018
Non-syndromic anorectal malformation with rectal atresia
Morphological anomaly
601023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023
Non-syndromic anorectal malformation with rectal stenosis
Morphological anomaly
601028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028
Non-syndromic anorectal malformation with rectovaginal fistula
Morphological anomaly
601033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033
Non-syndromic anorectal malformation with H-type fistula
Morphological anomaly
71274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274
Disseminated peritoneal leiomyomatosis
Disease
97945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945
Intestinal malformation
Category
108967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967
Non-syndromic intestinal malformation
Category
2300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300
Multiple intestinal atresia
Morphological anomaly
2301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301
Congenital short bowel syndrome
Morphological anomaly
1201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201
Small bowel atresia
Morphological anomaly
1198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198
Colonic atresia
Morphological anomaly
238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238
Digestive duplication
Morphological anomaly
508410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410
Familial intestinal malrotation
Morphological anomaly
1203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203
Duodenal atresia
Morphological anomaly
108969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969
Syndromic intestinal malformation
Category
557866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866
Rare disorder with Hirschsprung disease as a major feature
Category
2155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Hirschsprung disease-deafness-polydactyly syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
99803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
Haddad syndrome
Malformation syndrome
163746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Disease
897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Waardenburg-Shah syndrome
Disease
2150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150
Hirschsprung disease-type D brachydactyly syndrome
Malformation syndrome
2152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152
Mowat-Wilson syndrome
Malformation syndrome
261552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552
Mowat-Wilson syndrome due to a ZEB2 point mutation
Etiological subtype
261537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537
Mowat-Wilson syndrome due to monosomy 2q22
Etiological subtype
2153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Malformation syndrome
2464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464
Marfanoid syndrome, De Silva type
Malformation syndrome
1759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759
Thoraco-abdominal enteric duplication
Malformation syndrome
3405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405
Umbilical cord ulceration-intestinal atresia syndrome
Malformation syndrome
293864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Malformation syndrome
527468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation syndrome
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
436252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252
Combined immunodeficiency-enteropathy spectrum
Disease
171220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220
Rectal duplication
Morphological anomaly
506219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506219
Rare disorder potentially indicated for hematopoietic stem cell transplant
Category
171895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895
Myeloid hemopathy
Category
519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519
Acute myeloid leukemia
Clinical group
98277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277
Acute myeloid leukemia with recurrent genetic anomaly
Category
98829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Disease
98831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831
Acute myeloid leukemia with 11q23 abnormalities
Disease
102724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Disease
319480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480
Acute myeloid leukemia with CEBPA somatic mutations
Disease
402017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017
Acute myeloid leukemia with t(9;11)(p22;q23)
Disease
402020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Disease
370026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Disease
402026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026
Acute myeloid leukemia with NPM1 somatic mutations
Disease
402014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014
Acute myeloid leukemia with t(6;9)(p23;q34)
Disease
520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520
Acute promyelocytic leukemia
Disease
402023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Disease
585867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Disease
86845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845
Acute myeloid leukaemia with myelodysplasia-related features
Disease
86846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Category
164726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Disease
102379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Disease
102381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Disease
167714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714
Unclassified acute myeloid leukemia
Category
518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518
Acute megakaryoblastic leukemia
Disease
329469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469
Acute megakaryoblastic leukemia without Down syndrome
Clinical subtype
99887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887
Acute megakaryoblastic leukemia in Down syndrome
Clinical subtype
517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517
Acute myelomonocytic leukemia
Disease
318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318
Acute erythroid leukemia
Disease
514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514
Acute monoblastic/monocytic leukemia
Disease
98832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832
Acute myeloid leukemia with minimal differentiation
Disease
86843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843
Acute panmyelosis with myelofibrosis
Disease
86850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850
Myeloid sarcoma
Disease
98833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833
Acute myeloblastic leukemia without maturation
Disease
98834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834
Acute myeloblastic leukemia with maturation
Disease
86849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849
Acute basophilic leukemia
Disease
319465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465
Inherited acute myeloid leukemia
Disease
86851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851
Acute leukemia of ambiguous lineage
Category
98835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835
Acute undifferentiated leukemia
Disease
530995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995
Mixed phenotype acute leukemia
Disease
589534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Etiological subtype
589595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595
Mixed phenotype acute leukemia with t(v;11q23.3)
Etiological subtype
168943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
Category
168950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Disease
589542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Disease
168947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Disease
168953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Disease
52688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688
Myelodysplastic syndrome
Clinical group
86841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Disease
495930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930
Familial monosomy 7 syndrome
Disease
86839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839
Refractory anemia with excess blasts
Disease
100020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020
Refractory anemia with excess blasts type 2
Clinical subtype
100019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019
Refractory anemia with excess blasts type 1
Clinical subtype
168960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960
Refractory anemia with excess blasts in transformation
Disease
86836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836
Refractory cytopenia with multilineage dysplasia
Clinical group
98827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827
Unclassified myelodysplastic syndrome
Disease
101096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101096
Aregenerative anemia
Disease
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
98826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826
Refractory anemia
Disease
75564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564
Acquired idiopathic sideroblastic anemia
Disease
98274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274
Myeloproliferative neoplasm
Clinical group
168956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956
Hypereosinophilic syndrome
Clinical group
314962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962
Secondary hypereosinophilic syndrome
Disease
314970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970
Lymphocytic hypereosinophilic syndrome
Clinical subtype
3260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260
Idiopathic hypereosinophilic syndrome
Disease
314950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950
Primary hypereosinophilic syndrome
Disease
521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521
Chronic myeloid leukemia
Disease
824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Primary myelofibrosis
Disease
3318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318
Essential thrombocythemia
Disease
86830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830
Chronic myeloproliferative disease, unclassifiable
Disease
480851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851
Hereditary thrombocytopenia with early-onset myelofibrosis
Disease
168940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940
Chronic eosinophilic leukemia
Disease
420611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611
Transient myeloproliferative syndrome
Disease
729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729
Polycythemia vera
Disease
86829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829
Chronic neutrophilic leukemia
Disease
488280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280
14q32 duplication syndrome
Disease
98275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275
Myelodysplastic/myeloproliferative disease
Clinical group
98824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824
Atypical chronic myeloid leukemia
Disease
98825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825
Unclassified myelodysplastic/myeloproliferative disease
Disease
98823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823
Chronic myelomonocytic leukemia
Disease
86834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834
Juvenile myelomonocytic leukemia
Disease
98813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813
Hypohidrotic ectodermal dysplasia with immunodeficiency
Disease
158038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038
Primary hemophagocytic lymphohistiocytosis
Clinical group
2442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442
X-linked lymphoproliferative disease
Clinical group
538931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931
X-linked lymphoproliferative disease due to SH2D1A deficiency
Disease
538934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934
X-linked lymphoproliferative disease due to XIAP deficiency
Disease
540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540
Familial hemophagocytic lymphohistiocytosis
Disease
331249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249
Immunodeficiency syndrome with hypopigmentation
Category
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
101987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987
Constitutional neutropenia
Category
331184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184
Constitutional neutropenia with extra-hematopoietic manifestations
Category
369852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Disease
79259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Clinical subtype
111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111
Barth syndrome
Disease
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
221046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046
Poikiloderma with neutropenia
Disease
193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Cohen syndrome
Malformation syndrome
2390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390
Lichtenstein syndrome
Disease
699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Pearson syndrome
Disease
2690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690
Neutropenia-monocytopenia-deafness syndrome
Disease
51636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636
WHIM syndrome
Disease
90023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Disease
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
42738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738
Severe congenital neutropenia
Clinical group
86788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788
X-linked severe congenital neutropenia
Disease
486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486
Autosomal dominant severe congenital neutropenia
Disease
439849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849
Autosomal recessive severe congenital neutropenia
Category
420702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Disease
99749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749
Kostmann syndrome
Disease
331176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Disease
420699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Disease
423384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Disease
2686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686
Cyclic neutropenia
Disease
238510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238510
Lymphoproliferative syndrome
Clinical group
2442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442
X-linked lymphoproliferative disease
Clinical group
538931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931
X-linked lymphoproliferative disease due to SH2D1A deficiency
Disease
538934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934
X-linked lymphoproliferative disease due to XIAP deficiency
Disease
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
238505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505
Combined immunodeficiency due to CD27 deficiency
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
275517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Disease
275523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523
Dianzani autoimmune lymphoproliferative disease
Disease
436159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Disease
438159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159
STAT3-related early-onset multisystem autoimmune disease
Disease
538963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963
Combined immunodeficiency due to ITK deficiency
Disease
538958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958
Combined immunodeficiency due to CD70 deficiency
Disease
542301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301
Combined immunodeficiency due to CARMIL2 deficiency
Disease
619953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953
Familial hyperinflammatory lymphoproliferative immunodeficiency
Disease
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
169090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090
Combined immunodeficiency due to CRAC channel dysfunction
Disease
317430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430
Combined immunodeficiency due to STIM1 deficiency
Clinical subtype
317428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428
Combined immunodeficiency due to ORAI1 deficiency
Clinical subtype
221139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Disease
436252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252
Combined immunodeficiency-enteropathy spectrum
Disease
169346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Category
505227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227
Combined immunodeficiency due to GINS1 deficiency
Disease
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
420741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741
RIDDLE syndrome
Malformation syndrome
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
240760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760
Nijmegen breakage syndrome-like disorder
Malformation syndrome
2268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268
ICF syndrome
Malformation syndrome
647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
Nijmegen breakage syndrome
Malformation syndrome
75391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Disease
169355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355
Immunodeficiency syndrome with autoimmunity
Category
619948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Disease
658946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946
Early-onset autoimmune disorder due to DOCK11 partial deficiency
Disease
1855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Spondyloenchondrodysplasia
Malformation syndrome
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
444463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
169100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100
Immunodeficiency due to CD25 deficiency
Disease
228426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Syndromic multisystem autoimmune disease due to Itch deficiency
Disease
275517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Disease
37042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease
306550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550
FADD-related immunodeficiency
Disease
391487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
331240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331240
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Category
183666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666
Hyper-IgM syndrome without susceptibility to opportunistic infections
Disease
101092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092
Hyper-IgM syndrome type 5
Clinical subtype
101091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091
Hyper-IgM syndrome type 4
Clinical subtype
101089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089
Hyper-IgM syndrome type 2
Clinical subtype
252202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202
Constitutional mismatch repair deficiency syndrome
Disease
480549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549
Non-severe combined immunodeficiency
Category
99812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812
LIG4 syndrome
Disease
431149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149
Combined immunodeficiency due to OX40 deficiency
Disease
39041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041
Omenn syndrome
Disease
157949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949
Combined immunodeficiency with granulomatosis
Disease
169085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Disease
317476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Disease
447737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737
Combined immunodeficiency due to DOCK2 deficiency
Disease
464336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336
BENTA disease
Disease
447731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731
NIK deficiency
Disease
228000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000
Idiopathic CD4 lymphocytopenia
Biological anomaly
397964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964
Combined immunodeficiency due to MALT1 deficiency
Disease
760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760
Purine nucleoside phosphorylase deficiency
Disease
572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572
Immunodeficiency by defective expression of MHC class II
Disease
653751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751
X-linked combined immunodeficiency due to SASH3 deficiency
Disease
647804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804
Combined immunodeficiency due to FCHO1 deficiency
Disease
169082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082
Combined immunodeficiency due to CD3gamma deficiency
Disease
476113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113
Combined immunodeficiency due to TFRC deficiency
Disease
217390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390
Combined immunodeficiency due to DOCK8 deficiency
Disease
357329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329
Combined immunodeficiency due to IL21R deficiency
Disease
34592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592
Immunodeficiency by defective expression of MHC class I
Disease
169079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079
Cernunnos-XLF deficiency
Disease
183663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663
Hyper-IgM syndrome with susceptibility to opportunistic infections
Disease
101088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088
X-linked hyper-IgM syndrome
Clinical subtype
101090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090
Hyper-IgM syndrome type 3
Clinical subtype
504530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530
Combined immunodeficiency due to Moesin deficiency
Disease
911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911
Combined immunodeficiency due to ZAP70 deficiency
Disease
231154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154
Combined immunodeficiency due to partial RAG1 deficiency
Disease
397959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959
TCR-alpha-beta-positive T-cell deficiency
Disease
477661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661
IL21-related infantile inflammatory bowel disease
Disease
538963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963
Combined immunodeficiency due to ITK deficiency
Disease
445018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018
Combined immunodeficiency due to LRBA deficiency
Disease
314689
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689
Combined immunodeficiency due to STK4 deficiency
Disease
596759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759
Combined immunodeficiency due to RELA haploinsufficiency
Disease
183660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660
Severe combined immunodeficiency
Clinical group
317419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317419
T-B- severe combined immunodeficiency
Clinical group
280142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142
Severe combined immunodeficiency due to LCK deficiency
Disease
275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275
Severe combined immunodeficiency due to DCLRE1C deficiency
Disease
33355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355
Reticular dysgenesis
Disease
935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935
Short-limb skeletal dysplasia with severe combined immunodeficiency
Disease
317425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425
Severe combined immunodeficiency due to DNA-PKcs deficiency
Disease
277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277
Severe combined immunodeficiency due to adenosine deaminase deficiency
Disease
331206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Disease
317416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416
T-B+ severe combined immunodeficiency
Clinical group
276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Disease
169160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Disease
228003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003
Severe combined immunodeficiency due to CORO1A deficiency
Disease
504523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523
Severe combined immunodeficiency due to LAT deficiency
Disease
35078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Disease
169154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Disease
137631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Disease
169157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157
T-B+ severe combined immunodeficiency due to CD45 deficiency
Disease
397802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802
T+ B+ severe combined immunodeficiency
Clinical group
397787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787
Severe combined immunodeficiency due to IKK2 deficiency
Disease
420573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573
Severe combined immunodeficiency due to CTPS1 deficiency
Disease
357237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237
Combined immunodeficiency due to CARD11 deficiency
Disease
906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906
Wiskott-Aldrich syndrome
Disease
437552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Disease
324294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294
T-cell immunodeficiency with epidermodysplasia verruciformis
Disease
309810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Category
79095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095
Congenital bile acid synthesis defect type 4
Disease
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
35706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706
Glutaric acidemia type 3
Disease
926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926
Acatalasemia
Disease
93598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598
Primary hyperoxaluria type 1
Clinical subtype
79188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188
Peroxisomal beta-oxidation disorder
Category
2971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971
Peroxisomal acyl-CoA oxidase deficiency
Disease
300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300
Bifunctional enzyme deficiency
Disease
163684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Disease
43
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
X-linked adrenoleukodystrophy
Disease
139399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Adrenomyeloneuropathy
Clinical subtype
139396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
X-linked cerebral adrenoleukodystrophy
Clinical subtype
182040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040
Rare aplastic anemia
Category
164823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823
Rare acquired aplastic anemia
Category
824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824
Primary myelofibrosis
Disease
88
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88
Idiopathic aplastic anemia
Disease
98421
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421
Primary acquired red cell aplasia
Clinical group
98872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872
Primary acquired pure red cell aplasia
Disease
98871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871
Transient erythroblastopenia of childhood
Disease
447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447
Paroxysmal nocturnal hemoglobinuria
Disease
68383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383
Rare constitutional aplastic anemia
Category
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
3088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088
Revesz syndrome
Malformation syndrome
397692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692
Hereditary isolated aplastic anemia
Disease
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
3319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319
Congenital amegakaryocytic thrombocytopenia
Disease
314399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399
Autosomal dominant aplasia and myelodysplasia
Disease
3322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322
Hoyeraal-Hreidarsson syndrome
Disease
124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Diamond-Blackfan anemia
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
WT limb-blood syndrome
Disease
401764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764
Pancytopenia-developmental delay syndrome
Disease
611216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216
Aplastic anemia-intellectual disability-dwarfism syndrome
Disease
171898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898
Lymphoid hemopathy
Category
300324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324
Persistent polyclonal B-cell lymphocytosis
Disease
98282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282
Plasma cell tumor
Category
2905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905
POEMS syndrome
Disease
29073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073
Multiple myeloma
Disease
86861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861
Non-amyloid monoclonal immunoglobulin deposition disease
Disease
93556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556
Heavy chain deposition disease
Clinical subtype
93557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557
Light and heavy chain deposition disease
Clinical subtype
93558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558
Light chain deposition disease
Clinical subtype
85443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443
AL amyloidosis
Disease
314701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701
Primary systemic amyloidosis
Clinical subtype
314709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709
Primary localized amyloidosis
Clinical subtype
86855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855
Plasmacytoma
Disease
100021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021
Primary plasmacytoma of the bone
Clinical subtype
100022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022
Extramedullary soft tissue plasmacytoma
Clinical subtype
86864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864
Heavy chain disease
Disease
100025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025
Alpha-heavy chain disease
Clinical subtype
100024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024
Mu-heavy chain disease
Clinical subtype
100026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026
Gamma-heavy chain disease
Clinical subtype
454714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714
Plasma cell leukemia
Disease
160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160
Castleman disease
Disease
93685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685
Unicentric Castleman disease
Clinical subtype
570438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438
HHV-8-associated multicentric Castleman disease
Clinical subtype
570431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431
Idiopathic multicentric Castleman disease
Clinical subtype
223735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735
Lymphoma
Category
168966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966
Composite lymphoma
Disease
547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547
Non-Hodgkin lymphoma
Category
513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513
Acute lymphoblastic leukemia
Clinical group
99860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860
Precursor B-cell acute lymphoblastic leukemia
Disease
585877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Etiological subtype
641375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375
B-lymphoblastic leukemia/lymphoma with t(17;19)
Etiological subtype
585909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Etiological subtype
585918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Etiological subtype
585929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Etiological subtype
585936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Etiological subtype
585942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Etiological subtype
585948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Etiological subtype
585956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Etiological subtype
641372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
Etiological subtype
99861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861
Precursor T-cell acute lymphoblastic leukemia
Disease
171915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915
B-cell non-Hodgkin lymphoma
Category
300842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842
Indolent B-cell non-Hodgkin lymphoma
Category
33226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226
Waldenström macroglobulinemia
Disease
58017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017
Classic hairy cell leukemia
Disease
67038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038
B-cell chronic lymphocytic leukemia
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
300878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878
Hairy cell leukemia variant
Disease
300912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912
Marginal zone lymphoma
Clinical group
52417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417
MALT lymphoma
Disease
86854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854
Splenic marginal zone lymphoma
Disease
86867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867
Nodal marginal zone B-cell lymphoma
Disease
300869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869
Splenic diffuse red pulp small B-cell lymphoma
Disease
443159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159
Lymphoplasmacytic lymphoma without IgM production
Disease
545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545
Follicular lymphoma
Disease
300846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846
Aggressive B-cell non-Hodgkin lymphoma
Category
480541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Disease
543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543
Burkitt lymphoma
Disease
544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544
Diffuse large B-cell lymphoma
Clinical group
98838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838
Primary mediastinal large B-cell lymphoma
Disease
98839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839
Intravascular large B-cell lymphoma
Disease
86869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869
Lymphomatoid granulomatosis
Disease
300849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849
Diffuse large B-cell lymphoma of the central nervous system
Disease
300857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857
T-cell/histiocyte rich large B cell lymphoma
Disease
300888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888
Diffuse large B-cell lymphoma with chronic inflammation
Disease
364043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043
ALK-positive large B-cell lymphoma
Disease
289661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
Disease
48686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686
Primary effusion lymphoma
Disease
52416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416
Mantle cell lymphoma
Disease
86852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852
B-cell prolymphocytic leukemia
Disease
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
289666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666
Plasmablastic lymphoma
Disease
171918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918
T-cell non-Hodgkin lymphoma
Category
86880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880
Enteropathy-associated T-cell lymphoma
Disease
86886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886
Angioimmunoblastic T-cell lymphoma
Disease
86882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882
Hepatosplenic T-cell lymphoma
Disease
98841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841
Anaplastic large cell lymphoma
Disease
300903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903
ALK-negative anaplastic large cell lymphoma
Histopathological subtype
300895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895
ALK-positive anaplastic large cell lymphoma
Histopathological subtype
652658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658
Monomorphic epitheliotropic intestinal T-cell lymphoma
Disease
86870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870
Blastic plasmacytoid dendritic cell neoplasm
Disease
86871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871
T-cell prolymphocytic leukemia
Disease
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
364039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039
Hydroa vacciniforme-like lymphoma
Disease
364033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Disease
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
512034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034
Large granular lymphocyte leukemia
Clinical group
86872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872
T-cell large granular lymphocyte leukemia
Disease
86873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873
Aggressive NK-cell leukemia
Disease
512017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017
Chronic lymphoproliferative disorder of natural killer cells
Disease
652650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650
Nodal T-follicular helper cell lymphoma, follicular type
Disease
98293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293
Hodgkin lymphoma
Clinical group
391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391
Classic Hodgkin lymphoma
Disease
98846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846
Classic Hodgkin lymphoma, lymphocyte-depleted type
Histopathological subtype
98844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844
Classic Hodgkin lymphoma, mixed cellularity type
Histopathological subtype
98843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843
Classic Hodgkin lymphoma, nodular sclerosis type
Histopathological subtype
98845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845
Classic Hodgkin lymphoma, lymphocyte-rich type
Histopathological subtype
86893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893
Nodular lymphocyte predominant Hodgkin lymphoma
Disease
279911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911
Primary organ-specific lymphoma
Category
2420
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420
Primary pulmonary lymphoma
Disease
542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542
Primary cutaneous lymphoma
Category
178563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563
Primary cutaneous B-cell lymphoma
Category
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
279897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897
Primary oculocerebral lymphoma
Disease
314684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684
Primary bone lymphoma
Disease
319667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667
Primary lymphoma of the conjunctiva
Disease
97285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285
Thyroid lymphoma
Disease
279904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904
Primary intraocular lymphoma
Disease
46135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135
Primary central nervous system lymphoma
Disease
268114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114
RAS-associated autoimmune leukoproliferative disease
Disease
98290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290
Immunodeficiency-associated lymphoproliferative disease
Category
70568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568
Post-transplant lymphoproliferative disease
Disease
98291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291
Lymphoproliferative disease associated with primary immune disease
Category
86904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904
Methotrexate-associated lymphoproliferative disorders
Disease
3261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261
Autoimmune lymphoproliferative syndrome
Disease
98287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287
Histiocytic and dendritic cell tumor
Category
98288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288
Macrophage or histiocytic tumor
Category
86896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896
Histiocytic sarcoma
Disease
98289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289
Dendritic cell tumor
Category
86903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903
Dendritic cell sarcoma not otherwise specified
Disease
86900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900
Interdigitating dendritic cell sarcoma
Disease
158019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019
Indeterminate cell histiocytosis
Disease
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
86897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897
Langerhans cell sarcoma
Disease
652522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Disease
658951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951
Early-onset immune dysregulation due to DOCK11 complete deficiency
Disease
658946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946
Early-onset autoimmune disorder due to DOCK11 partial deficiency
Disease
2300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300
Multiple intestinal atresia
Morphological anomaly
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
79225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225
Sphingolipidosis
Category
487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487
Krabbe disease
Disease
206436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436
Infantile Krabbe disease
Clinical subtype
206443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443
Late-infantile/juvenile Krabbe disease
Clinical subtype
206448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448
Adult Krabbe disease
Clinical subtype
355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355
Gaucher disease
Disease
2072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Clinical subtype
85212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212
Fetal Gaucher disease
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
77260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Gaucher disease type 2
Clinical subtype
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
309252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252
Atypical Gaucher disease due to saposin C deficiency
Clinical subtype
79204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204
Lipid storage disease
Category
275761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761
Lysosomal acid lipase deficiency
Disease
75234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234
Cholesteryl ester storage disease
Clinical subtype
75233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233
Wolman disease
Clinical subtype
646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Niemann-Pick disease type C
Disease
216975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, severe early infantile neurologic onset
Clinical subtype
216978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, late infantile neurologic onset
Clinical subtype
216981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, juvenile neurologic onset
Clinical subtype
216972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Niemann-Pick disease type C, severe perinatal form
Clinical subtype
216986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Niemann-Pick disease type C, adult neurologic onset
Clinical subtype
139406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406
Encephalopathy due to prosaposin deficiency
Disease
309144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144
Gangliosidosis
Category
354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354
GM1 gangliosidosis
Disease
79256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256
GM1 gangliosidosis type 2
Clinical subtype
79257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257
GM1 gangliosidosis type 3
Clinical subtype
79255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
GM1 gangliosidosis type 1
Clinical subtype
309152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152
GM2 gangliosidosis
Clinical group
796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796
Sandhoff disease
Disease
309169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169
Sandhoff disease, adult form
Clinical subtype
309155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155
Sandhoff disease, infantile form
Clinical subtype
309162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162
Sandhoff disease, juvenile form
Clinical subtype
309246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246
GM2 gangliosidosis, AB variant
Disease
845
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845
Tay-Sachs disease
Disease
309178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178
Tay-Sachs disease, infantile form
Clinical subtype
309185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185
Tay-Sachs disease, juvenile form
Clinical subtype
309192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192
Tay-Sachs disease, adult form
Clinical subtype
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512
Metachromatic leukodystrophy
Disease
309271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271
Metachromatic leukodystrophy, adult form
Clinical subtype
309256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256
Metachromatic leukodystrophy, late infantile form
Clinical subtype
309263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263
Metachromatic leukodystrophy, juvenile form
Clinical subtype
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
352641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641
Autosomal recessive cerebellar ataxia with late-onset spasticity
Disease
618899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899
Acid sphingomyelinase deficiency
Clinical group
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333
Farber disease
Disease
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
68364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364
Hemoglobinopathy
Category
99139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139
Unstable hemoglobin disease
Disease
621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621
Hereditary methemoglobinemia
Disease
2132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132
Hemoglobin C disease
Disease
90039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039
Hemoglobin D disease
Disease
280615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615
Hemoglobinopathy Toms River
Disease
275749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749
Beta-thalassemia and related diseases
Category
231386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386
Beta-thalassemia with other manifestations
Category
231393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393
Beta-thalassemia-X-linked thrombocytopenia syndrome
Disease
231230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230
Beta-thalassemia associated with another hemoglobin anomaly
Category
46532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Disease
231237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237
Delta-beta-thalassemia
Disease
231249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249
Hemoglobin E-beta-thalassemia syndrome
Disease
231242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242
Hemoglobin C-beta-thalassemia syndrome
Disease
330032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032
Hemoglobin Lepore-beta-thalassemia syndrome
Disease
848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848
Beta-thalassemia
Disease
231226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226
Dominant beta-thalassemia
Clinical subtype
231222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222
Beta-thalassemia intermedia
Clinical subtype
231214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214
Beta-thalassemia major
Clinical subtype
619233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Disease
464453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453
Acquired methemoglobinemia
Disease
275752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752
Sickle cell disease and related diseases
Category
251355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251355
Sickle cell disease associated with another hemoglobin anomaly
Category
251375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375
Sickle cell-hemoglobin E disease syndrome
Disease
251380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Disease
251365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365
Sickle cell-hemoglobin C disease syndrome
Disease
251370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370
Sickle cell-hemoglobin D disease syndrome
Disease
251359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359
Sickle cell-beta-thalassemia disease syndrome
Disease
232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
Sickle cell anemia
Disease
330041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041
Hemoglobin M disease
Disease
275745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745
Alpha-thalassemia and related disorders
Category
846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846
Alpha-thalassemia
Disease
93616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616
Hemoglobin H disease
Clinical subtype
163596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596
Hb Bart's hydrops fetalis
Clinical subtype
232288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288
Syndrome with alpha-thalassemia as a major feature
Category
847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Alpha-thalassemia-X-linked intellectual disability syndrome
Malformation syndrome
98791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Malformation syndrome
231401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401
Alpha-thalassemia-myelodysplastic syndrome
Disease
2133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133
Hemoglobin E disease
Disease
2781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781
Osteopetrosis and related disorders
Clinical group
210110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110
Intermediate osteopetrosis
Malformation syndrome
2485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485
Melorheostosis
Malformation syndrome
667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667
Autosomal recessive malignant osteopetrosis
Malformation syndrome
85179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179
Infantile osteopetrosis with neuroaxonal dysplasia
Malformation syndrome
556985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Disease
1879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879
Melorheostosis with osteopoikilosis
Malformation syndrome
2783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783
Autosomal dominant osteopetrosis type 1
Malformation syndrome
178389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389
Osteopetrosis-hypogammaglobulinemia syndrome
Disease
500548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548
Osteosclerotic metaphyseal dysplasia
Malformation syndrome
53
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53
Albers-Schönberg osteopetrosis
Malformation syndrome
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782
Dysosteosclerosis
Malformation syndrome
2777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777
Osteomesopyknosis
Malformation syndrome
94063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
12q14 microdeletion syndrome
Malformation syndrome
166119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119
Isolated osteopoikilosis
Disease
2785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785
Osteopetrosis with renal tubular acidosis
Disease
2780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780
Osteopathia striata-cranial sclerosis syndrome
Malformation syndrome
99844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844
Leukocyte adhesion deficiency type III
Clinical subtype
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
3399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399
Germ cell tumor
Category
363579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579
Extragonadal germ cell tumor
Category
99913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99913
Extragonadal non-dysgerminomatous germ cell tumor
Category
180234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234
Mixed germ cell tumor
Disease
252021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021
Mixed germ cell tumor of central nervous system
Clinical subtype
314613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613
Growing teratoma syndrome
Particular clinical situation in a disease or syndrome
180229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229
Polyembryoma
Disease
883
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883
Extragonadal teratoma
Disease
141107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107
Nasopharyngeal teratoma
Clinical subtype
494421
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421
Sacrococcygeal teratoma
Clinical subtype
141077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077
Epignathus
Clinical subtype
252018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018
Teratoma of the central nervous system
Clinical subtype
876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876
Yolk sac tumor
Disease
252006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006
Yolk sac tumor of central nervous system
Clinical subtype
99926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926
Gestational choriocarcinoma
Disease
180226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226
Embryonal carcinoma
Disease
48736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736
Embryonal carcinoma of the central nervous system
Clinical subtype
289362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362
Non-central nervous system-localized embryonal carcinoma
Clinical subtype
182127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127
Extragonadal germinoma
Disease
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
251995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995
Primary germ cell tumor of central nervous system
Category
48736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736
Embryonal carcinoma of the central nervous system
Clinical subtype
252018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018
Teratoma of the central nervous system
Clinical subtype
252021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021
Mixed germ cell tumor of central nervous system
Clinical subtype
252015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015
Choriocarcinoma of the central nervous system
Disease
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
252006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006
Yolk sac tumor of central nervous system
Clinical subtype
363582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582
Gonadal germ cell tumor
Category
35807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807
Malignant germ cell tumor of ovary
Category
99912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912
Ovarian dysgerminoma
Disease
206538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538
Malignant non-dysgerminomatous germ cell tumor of ovary
Disease
289356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356
Primary non-gestational choriocarcinoma of ovary
Disease
363504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504
Germ cell tumor of testis
Category
363494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494
Non-seminomatous germ cell tumor of testis
Disease
842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842
Testicular seminomatous germ cell tumor
Disease
99865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865
Spermatocytic seminoma
Disease
668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668
Osteosarcoma
Disease
370334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334
Extraskeletal Ewing sarcoma
Disease
506222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506222
Rare disorder potentially indicated for lung transplant
Category
586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586
Cystic fibrosis
Disease
3188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188
Congenital pulmonary veins atresia or stenosis
Clinical group
99126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126
Congenital pulmonary vein atresia
Morphological anomaly
642071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071
Primary pulmonary vein stenosis
Disease
1303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303
Bronchiolitis obliterans
Clinical group
658602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658602
Transplant-related bronchiolitis obliterans
Disease
658612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658612
Non-transplant-related bronchiolitis obliterans
Disease
182095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095
Interstitial lung disease
Category
264757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264757
Interstitial lung disease in childhood and adulthood
Category
264944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264944
Secondary interstitial lung disease in childhood and adulthood
Category
264949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264949
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
Category
264968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264968
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
Category
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Niemann-Pick disease type C
Disease
216975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, severe early infantile neurologic onset
Clinical subtype
216978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, late infantile neurologic onset
Clinical subtype
216981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, juvenile neurologic onset
Clinical subtype
216972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Niemann-Pick disease type C, severe perinatal form
Clinical subtype
216986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Niemann-Pick disease type C, adult neurologic onset
Clinical subtype
182104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182104
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
Category
809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809
Mixed connective tissue disease
Disease
264973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264973
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
Category
91138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138
Cryoglobulinemic vasculitis
Disease
93555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555
Mixed cryoglobulinemia type III
Etiological subtype
93554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554
Mixed cryoglobulinemia type II
Etiological subtype
156152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Clinical group
183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183
Eosinophilic granulomatosis with polyangiitis
Disease
727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727
Microscopic polyangiitis
Disease
900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900
Granulomatosis with polyangiitis
Disease
375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375
Anti-glomerular basement membrane disease
Disease
264984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264984
Exposure-related interstitial lung disease
Category
31740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740
Hypersensitivity pneumonitis
Clinical group
99909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99909
Occupational allergic alveolitis
Clinical group
99908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99908
Pigeon-breeder lung disease
Disease
99906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99906
Farmer's lung disease
Disease
99907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99907
House allergic alveolitis
Disease
264978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978
Drug or radiation exposure-related interstitial lung disease
Particular clinical situation in a disease or syndrome
420259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259
Secondary pulmonary alveolar proteinosis
Disease
99930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930
Secondary pulmonary hemosiderosis
Disease
99932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932
Heiner syndrome
Clinical subtype
264762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264762
Primary interstitial lung disease in childhood and adulthood
Category
264935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264935
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
Category
182101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182101
Idiopathic eosinophilic pneumonia
Clinical group
2902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902
Idiopathic chronic eosinophilic pneumonia
Disease
724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724
Idiopathic acute eosinophilic pneumonia
Disease
264930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264930
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Category
440392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392
Interstitial lung disease due to SP-C deficiency
Disease
217566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566
Chronic respiratory distress with surfactant metabolism deficiency
Disease
99931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931
Idiopathic pulmonary hemosiderosis
Disease
264735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264735
Interstitial lung disease specific to adulthood
Category
264740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264740
Primary interstitial lung disease specific to adulthood
Category
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538
Lymphangioleiomyomatosis
Disease
747
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747
Autoimmune pulmonary alveolar proteinosis
Disease
182098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182098
Pneumoconiosis
Clinical group
2302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302
Asbestos intoxication
Disease
133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133
Chronic beryllium disease
Disease
70578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578
Adult acute respiratory distress syndrome
Disease
98300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98300
Idiopathic interstitial pneumonia
Clinical group
2032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032
Idiopathic pulmonary fibrosis
Disease
79127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127
Respiratory bronchiolitis-interstitial lung disease syndrome
Disease
79128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128
Lymphoid interstitial pneumonia
Disease
1302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302
Cryptogenic organizing pneumonia
Disease
91364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364
Non-specific interstitial pneumonia
Disease
98852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852
Desquamative interstitial pneumonia
Disease
300564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564
Combined pulmonary fibrosis-emphysema syndrome
Disease
79126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126
Acute interstitial pneumonia
Disease
494428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428
Idiopathic pleuroparenchymal fibroelastosis
Disease
210136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Disease
221043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Disease
617916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Disease
264745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264745
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
Category
81
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81
Antisynthetase syndrome
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
264656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264656
Interstitial lung disease specific to childhood
Category
264665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264665
Primary interstitial lung disease specific to childhood
Category
264670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264670
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
Category
306504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease
70587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70587
Infant acute respiratory distress syndrome
Disease
100049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Category
209905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905
Brain-lung-thyroid syndrome
Disease
440402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402
Interstitial lung disease due to ABCA3 deficiency
Disease
572428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Disease
217563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563
Neonatal acute respiratory distress due to SP-B deficiency
Disease
264675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675
Hereditary pulmonary alveolar proteinosis
Disease
440427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Disease
264694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264694
Interstitial lung disease specific to infancy
Category
217557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557
Pulmonary interstitial glycogenosis
Disease
217560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560
Neuroendocrine cell hyperplasia of infancy
Disease
621758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Disease
91359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359
Chronic pneumonitis of infancy
Disease
264683
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264683
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
Category
662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662
Yellow nail syndrome
Disease
352629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629
16q24.1 microdeletion syndrome
Disease
210122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122
Congenital alveolar capillary dysplasia
Disease
264688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688
Congenital chylothorax
Disease
2414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414
Congenital pulmonary lymphangiectasia
Disease
264691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691
Isolated pulmonary capillaritis
Disease
137631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Disease
264699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264699
Secondary interstitial lung disease specific to childhood associated with a systemic disease
Category
264714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264714
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
264719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264719
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
Category
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
77260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Gaucher disease type 2
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Familial hypocalciuric hypercalcemia
Disease
93372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Familial hypocalciuric hypercalcemia type 1
Etiological subtype
101049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 2
Etiological subtype
101050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Familial hypocalciuric hypercalcemia type 3
Etiological subtype
618899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899
Acid sphingomyelinase deficiency
Clinical group
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
264704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264704
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Category
92
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92
Juvenile idiopathic arthritis
Clinical group
91140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140
Unspecified juvenile idiopathic arthritis
Disease
404580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580
Polyarticular juvenile idiopathic arthritis
Clinical group
85435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Disease
85408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Disease
85438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438
Enthesitis-related juvenile idiopathic arthritis
Disease
85414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414
Systemic-onset juvenile idiopathic arthritis
Disease
85410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410
Oligoarticular juvenile idiopathic arthritis
Disease
85436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436
Psoriasis-related juvenile idiopathic arthritis
Disease
93568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568
Juvenile polymyositis
Disease
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
619367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367
SAMD9L-associated autoinflammatory syndrome
Disease
264709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264709
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
Category
761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761
Immunoglobulin A vasculitis
Disease
444092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092
Autoimmune interstitial lung disease-arthritis syndrome
Disease
182090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090
Pulmonary arterial hypertension
Category
275791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791
Pulmonary arterial hypertension associated with another disease
Category
275798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798
Pulmonary arterial hypertension associated with connective tissue disease
Clinical group
275803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803
Pulmonary arterial hypertension associated with congenital heart disease
Clinical group
97214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214
Eisenmenger syndrome
Malformation syndrome
275813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813
Pulmonary arterial hypertension associated with portal hypertension
Clinical group
275828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828
Pulmonary arterial hypertension associated with chronic hemolytic anemia
Clinical group
275823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823
Pulmonary arterial hypertension associated with schistosomiasis
Clinical group
275808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808
Pulmonary arterial hypertension associated with HIV infection
Clinical group
275786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786
Drug- or toxin-induced pulmonary arterial hypertension
Clinical group
422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422
Idiopathic/heritable pulmonary arterial hypertension
Disease
275766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766
Idiopathic pulmonary arterial hypertension
Etiological subtype
275777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777
Heritable pulmonary arterial hypertension
Etiological subtype
137667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667
Capillary malformation-arteriovenous malformation
Malformation syndrome
90052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Particular clinical situation in a disease or syndrome
39812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812
Graft versus host disease
Disease
99920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920
Acute graft versus host disease
Clinical subtype
99921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921
Chronic graft versus host disease
Clinical subtype
244275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275
De novo thrombotic microangiopathy after kidney transplantation
Particular clinical situation in a disease or syndrome