Level/ Type |
Code |
Display Name |
Code System |
0‑L |
10
|
48,XXYY syndrome
|
ORPHAnet |
0‑L |
100
|
Ataxia-telangiectasia
|
ORPHAnet |
0‑L |
1000
|
Ocular albinism with late-onset sensorineural deafness
|
ORPHAnet |
0‑L |
100000
|
Reticular perineurioma
|
ORPHAnet |
0‑L |
100001
|
Sclerosing perineurioma
|
ORPHAnet |
0‑L |
100002
|
Extraneural perineurioma
|
ORPHAnet |
0‑L |
100003
|
Intraneural perineurioma
|
ORPHAnet |
0‑L |
100006
|
ABeta amyloidosis, Dutch type
|
ORPHAnet |
0‑L |
100008
|
ACys amyloidosis
|
ORPHAnet |
0‑L |
100011
|
Lissencephaly with cerebellar hypoplasia type A
|
ORPHAnet |
0‑L |
100012
|
Lissencephaly with cerebellar hypoplasia type B
|
ORPHAnet |
0‑L |
100013
|
Lissencephaly with cerebellar hypoplasia type C
|
ORPHAnet |
0‑L |
100014
|
Lissencephaly with cerebellar hypoplasia type D
|
ORPHAnet |
0‑L |
100015
|
Lissencephaly with cerebellar hypoplasia type E
|
ORPHAnet |
0‑L |
100016
|
Lissencephaly with cerebellar hypoplasia type F
|
ORPHAnet |
0‑L |
100019
|
Refractory anemia with excess blasts type 1
|
ORPHAnet |
0‑L |
100020
|
Refractory anemia with excess blasts type 2
|
ORPHAnet |
0‑L |
100021
|
Primary plasmacytoma of the bone
|
ORPHAnet |
0‑L |
100022
|
Extramedullary soft tissue plasmacytoma
|
ORPHAnet |
0‑L |
100024
|
Mu-heavy chain disease
|
ORPHAnet |
0‑L |
100025
|
Alpha-heavy chain disease
|
ORPHAnet |
0‑L |
100026
|
Gamma-heavy chain disease
|
ORPHAnet |
0‑L |
100031
|
Hypoplastic amelogenesis imperfecta
|
ORPHAnet |
0‑L |
100032
|
Hypocalcified amelogenesis imperfecta
|
ORPHAnet |
0‑L |
100033
|
Hypomaturation amelogenesis imperfecta
|
ORPHAnet |
0‑L |
100034
|
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
|
ORPHAnet |
0‑L |
100035
|
Solitary necrotic nodule of the liver
|
ORPHAnet |
0‑L |
100043
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
|
ORPHAnet |
0‑L |
100044
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
|
ORPHAnet |
0‑L |
100045
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
|
ORPHAnet |
0‑L |
100046
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
|
ORPHAnet |
0‑L |
100047
|
Esophageal duplication cyst
|
ORPHAnet |
0‑L |
100048
|
Tubular duplication of the esophagus
|
ORPHAnet |
0‑L |
100050
|
Hereditary angioedema type 1
|
ORPHAnet |
0‑L |
100051
|
Hereditary angioedema type 2
|
ORPHAnet |
0‑L |
100054
|
F12-related hereditary angioedema with normal C1Inh
|
ORPHAnet |
0‑L |
100055
|
Acquired angioedema type 2
|
ORPHAnet |
0‑L |
100056
|
Acquired angioedema type 1
|
ORPHAnet |
0‑L |
100057
|
Renin-angiotensin-aldosterone system-blocker-induced angioedema
|
ORPHAnet |
0‑L |
100067
|
Waterhouse-Friderichsen syndrome
|
ORPHAnet |
0‑L |
100069
|
Semantic dementia
|
ORPHAnet |
0‑L |
100070
|
Progressive non-fluent aphasia
|
ORPHAnet |
0‑L |
100071
|
Mosaic trisomy 3
|
ORPHAnet |
0‑L |
100073
|
Neurogenic thoracic outlet syndrome
|
ORPHAnet |
0‑L |
100075
|
Neuroendocrine tumor of stomach
|
ORPHAnet |
0‑L |
100078
|
Ileal neuroendocrine tumor
|
ORPHAnet |
0‑L |
100079
|
Neuroendocrine neoplasm of appendix
|
ORPHAnet |
0‑L |
100080
|
Neuroendocrine tumor of the colon
|
ORPHAnet |
0‑L |
100081
|
Neuroendocrine tumor of the rectum
|
ORPHAnet |
0‑L |
100082
|
Neuroendocrine tumor of anal canal
|
ORPHAnet |
0‑L |
100083
|
Laryngeal neuroendocrine tumor
|
ORPHAnet |
0‑L |
100084
|
Middle ear neuroendocrine tumor
|
ORPHAnet |
0‑L |
100085
|
Primary hepatic neuroendocrine carcinoma
|
ORPHAnet |
0‑L |
100086
|
Gallbladder neuroendocrine tumor
|
ORPHAnet |
0‑L |
100093
|
Carcinoid syndrome
|
ORPHAnet |
0‑L |
1001
|
2q37 microdeletion syndrome
|
ORPHAnet |
0‑L |
1003
|
Scalp defects-postaxial polydactyly syndrome
|
ORPHAnet |
0‑L |
1005
|
Alopecia-contractures-dwarfism-intellectual disability syndrome
|
ORPHAnet |
0‑L |
1006
|
Alopecia antibody deficiency
|
ORPHAnet |
0‑L |
1008
|
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
|
ORPHAnet |
0‑L |
100924
|
Porphyria due to ALA dehydratase deficiency
|
ORPHAnet |
0‑L |
100973
|
FRAXE intellectual disability
|
ORPHAnet |
0‑L |
100974
|
FRAXF syndrome
|
ORPHAnet |
0‑L |
100976
|
Bathing suit ichthyosis
|
ORPHAnet |
0‑L |
100978
|
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
|
ORPHAnet |
0‑L |
100984
|
Autosomal dominant spastic paraplegia type 3
|
ORPHAnet |
0‑L |
100985
|
Autosomal dominant spastic paraplegia type 4
|
ORPHAnet |
0‑L |
100986
|
Autosomal recessive spastic paraplegia type 5A
|
ORPHAnet |
0‑L |
100988
|
Autosomal dominant spastic paraplegia type 6
|
ORPHAnet |
0‑L |
100989
|
Autosomal dominant spastic paraplegia type 8
|
ORPHAnet |
0‑L |
100991
|
Autosomal dominant spastic paraplegia type 10
|
ORPHAnet |
0‑L |
100993
|
Autosomal dominant spastic paraplegia type 12
|
ORPHAnet |
0‑L |
100994
|
Autosomal dominant spastic paraplegia type 13
|
ORPHAnet |
0‑L |
100995
|
Autosomal recessive spastic paraplegia type 14
|
ORPHAnet |
0‑L |
100996
|
Autosomal recessive spastic paraplegia type 15
|
ORPHAnet |
0‑L |
100997
|
X-linked spastic paraplegia type 16
|
ORPHAnet |
0‑L |
100998
|
Autosomal dominant spastic paraplegia type 17
|
ORPHAnet |
0‑L |
100999
|
Autosomal dominant spastic paraplegia type 19
|
ORPHAnet |
0‑L |
101
|
Dentatorubral pallidoluysian atrophy
|
ORPHAnet |
0‑L |
1010
|
Autosomal dominant palmoplantar keratoderma and congenital alopecia
|
ORPHAnet |
0‑L |
101000
|
Autosomal recessive spastic paraplegia type 20
|
ORPHAnet |
0‑L |
101001
|
Autosomal recessive spastic paraplegia type 21
|
ORPHAnet |
0‑L |
101003
|
Autosomal recessive spastic paraplegia type 23
|
ORPHAnet |
0‑L |
101004
|
Autosomal recessive spastic paraplegia type 24
|
ORPHAnet |
0‑L |
101005
|
Autosomal recessive spastic paraplegia type 25
|
ORPHAnet |
0‑L |
101006
|
Autosomal recessive spastic paraplegia type 26
|
ORPHAnet |
0‑L |
101007
|
Autosomal recessive spastic paraplegia type 27
|
ORPHAnet |
0‑L |
101008
|
Autosomal recessive spastic paraplegia type 28
|
ORPHAnet |
0‑L |
101009
|
Autosomal dominant spastic paraplegia type 29
|
ORPHAnet |
0‑L |
101010
|
Autosomal spastic paraplegia type 30
|
ORPHAnet |
0‑L |
101011
|
Autosomal dominant spastic paraplegia type 31
|
ORPHAnet |
0‑L |
101016
|
Romano-Ward syndrome
|
ORPHAnet |
0‑L |
101023
|
Cleft hard palate
|
ORPHAnet |
0‑L |
101028
|
Transaldolase deficiency
|
ORPHAnet |
0‑L |
101029
|
Sub-cortical nodular heterotopia
|
ORPHAnet |
0‑L |
101030
|
Subependymal nodular heterotopia
|
ORPHAnet |
0‑L |
101039
|
Female restricted epilepsy with intellectual disability
|
ORPHAnet |
0‑L |
101041
|
Familial hypofibrinogenemia
|
ORPHAnet |
0‑L |
101043
|
Congenital aortic valve dysplasia
|
ORPHAnet |
0‑L |
101046
|
Autosomal dominant epilepsy with auditory features
|
ORPHAnet |
0‑L |
101049
|
Familial hypocalciuric hypercalcemia type 2
|
ORPHAnet |
0‑L |
101050
|
Familial hypocalciuric hypercalcemia type 3
|
ORPHAnet |
0‑L |
101063
|
Situs inversus totalis
|
ORPHAnet |
0‑L |
101068
|
Congenital stromal corneal dystrophy
|
ORPHAnet |
0‑L |
101070
|
Bilateral frontoparietal polymicrogyria
|
ORPHAnet |
0‑L |
101071
|
Unilateral hemispheric polymicrogyria
|
ORPHAnet |
0‑L |
101075
|
X-linked Charcot-Marie-Tooth disease type 1
|
ORPHAnet |
0‑L |
101076
|
X-linked Charcot-Marie-Tooth disease type 2
|
ORPHAnet |
0‑L |
101077
|
X-linked Charcot-Marie-Tooth disease type 3
|
ORPHAnet |
0‑L |
101078
|
X-linked Charcot-Marie-Tooth disease type 4
|
ORPHAnet |
0‑L |
101081
|
Charcot-Marie-Tooth disease type 1A
|
ORPHAnet |
0‑L |
101082
|
Charcot-Marie-Tooth disease type 1B
|
ORPHAnet |
0‑L |
101083
|
Charcot-Marie-Tooth disease type 1C
|
ORPHAnet |
0‑L |
101084
|
Charcot-Marie-Tooth disease type 1D
|
ORPHAnet |
0‑L |
101085
|
Charcot-Marie-Tooth disease type 1F
|
ORPHAnet |
0‑L |
101088
|
X-linked hyper-IgM syndrome
|
ORPHAnet |
0‑L |
101089
|
Hyper-IgM syndrome type 2
|
ORPHAnet |
0‑L |
101090
|
Hyper-IgM syndrome type 3
|
ORPHAnet |
0‑L |
101091
|
Hyper-IgM syndrome type 4
|
ORPHAnet |
0‑L |
101092
|
Hyper-IgM syndrome type 5
|
ORPHAnet |
0‑L |
101096
|
Aregenerative anemia
|
ORPHAnet |
0‑L |
101097
|
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
|
ORPHAnet |
0‑L |
101101
|
Charcot-Marie-Tooth disease type 2B2
|
ORPHAnet |
0‑L |
101102
|
Charcot-Marie-Tooth disease type 2H
|
ORPHAnet |
0‑L |
101104
|
Marin-Amat syndrome
|
ORPHAnet |
0‑L |
101108
|
Spinocerebellar ataxia type 23
|
ORPHAnet |
0‑L |
101109
|
Spinocerebellar ataxia type 28
|
ORPHAnet |
0‑L |
101110
|
Spinocerebellar ataxia type 20
|
ORPHAnet |
0‑L |
101111
|
Spinocerebellar ataxia type 25
|
ORPHAnet |
0‑L |
101112
|
Spinocerebellar ataxia type 26
|
ORPHAnet |
0‑L |
101150
|
Autosomal recessive dopa-responsive dystonia
|
ORPHAnet |
0‑L |
101206
|
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
|
ORPHAnet |
0‑L |
101330
|
Porphyria cutanea tarda
|
ORPHAnet |
0‑L |
101334
|
African tick typhus
|
ORPHAnet |
0‑L |
101351
|
Familial isolated congenital asplenia
|
ORPHAnet |
0‑L |
1014
|
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
|
ORPHAnet |
0‑L |
101685
|
Rare non-syndromic intellectual disability
|
ORPHAnet |
0‑L |
1018
|
X-linked Alport syndrome-diffuse leiomyomatosis
|
ORPHAnet |
0‑L |
101932
|
Anomaly of the mitral subvalvular apparatus
|
ORPHAnet |
0‑L |
102
|
Multiple system atrophy
|
ORPHAnet |
0‑L |
1020
|
Early-onset autosomal dominant Alzheimer disease
|
ORPHAnet |
0‑L |
1021
|
Amaurosis-hypertrichosis syndrome
|
ORPHAnet |
0‑L |
1023
|
Congenital generalized hypertrichosis, Ambras type
|
ORPHAnet |
0‑L |
102379
|
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
|
ORPHAnet |
0‑L |
102381
|
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type
2 inhibitor
|
ORPHAnet |
0‑L |
1027
|
Autosomal recessive amelia
|
ORPHAnet |
0‑L |
102724
|
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
|
ORPHAnet |
0‑L |
1028
|
Amelo-onycho-hypohidrotic syndrome
|
ORPHAnet |
0‑L |
1031
|
Enamel-renal syndrome
|
ORPHAnet |
0‑L |
1035
|
Beta-mercaptolactate cysteine disulfiduria
|
ORPHAnet |
0‑L |
103907
|
Chronic diarrhea due to glucoamylase deficiency
|
ORPHAnet |
0‑L |
103908
|
Congenital sodium diarrhea
|
ORPHAnet |
0‑L |
103909
|
Trehalase deficiency
|
ORPHAnet |
0‑L |
103910
|
Congenital enterocyte heparan sulfate deficiency
|
ORPHAnet |
0‑L |
103918
|
Tropical pancreatitis
|
ORPHAnet |
0‑L |
103920
|
Undetermined colitis
|
ORPHAnet |
0‑L |
104
|
Leber hereditary optic neuropathy
|
ORPHAnet |
0‑L |
1040
|
Metaphyseal anadysplasia
|
ORPHAnet |
0‑L |
104075
|
Adenocarcinoma of the small intestine
|
ORPHAnet |
0‑L |
104076
|
Leiomyosarcoma of small intestine
|
ORPHAnet |
0‑L |
104077
|
Myopathic intestinal pseudoobstruction
|
ORPHAnet |
0‑L |
104078
|
Unclassified intestinal pseudoobstruction
|
ORPHAnet |
0‑L |
1041
|
Hydrops fetalis
|
ORPHAnet |
0‑L |
1046
|
Lethal hemolytic anemia-genital anomalies syndrome
|
ORPHAnet |
0‑L |
1048
|
Isolated anencephaly/exencephaly
|
ORPHAnet |
0‑L |
105
|
Atresia of urethra
|
ORPHAnet |
0‑L |
1051
|
Ramos-Arroyo syndrome
|
ORPHAnet |
0‑L |
1052
|
Mosaic variegated aneuploidy syndrome
|
ORPHAnet |
0‑L |
1053
|
Vein of Galen aneurysmal malformation
|
ORPHAnet |
0‑L |
1054
|
Aneurysm of sinus of Valsalva
|
ORPHAnet |
0‑L |
1055
|
Congenital left ventricular aneurysm
|
ORPHAnet |
0‑L |
1059
|
Blue rubber bleb nevus
|
ORPHAnet |
0‑L |
1062
|
Hereditary neurocutaneous malformation
|
ORPHAnet |
0‑L |
1063
|
Tufted angioma
|
ORPHAnet |
0‑L |
1064
|
Aniridia-renal agenesis-psychomotor retardation syndrome
|
ORPHAnet |
0‑L |
1065
|
Aniridia-cerebellar ataxia-intellectual disability syndrome
|
ORPHAnet |
0‑L |
1067
|
Aniridia-ptosis-intellectual disability-familial obesity syndrome
|
ORPHAnet |
0‑L |
1068
|
Aniridia-intellectual disability syndrome
|
ORPHAnet |
0‑L |
1069
|
Aniridia-absent patella syndrome
|
ORPHAnet |
0‑L |
107
|
BOR syndrome
|
ORPHAnet |
0‑L |
1070
|
Anisakiasis
|
ORPHAnet |
0‑L |
1071
|
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
|
ORPHAnet |
0‑L |
1072
|
Ankyloblepharon filiforme adnatum-cleft palate syndrome
|
ORPHAnet |
0‑L |
1074
|
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
|
ORPHAnet |
0‑L |
1077
|
Dental ankylosis
|
ORPHAnet |
0‑L |
1078
|
Thumb stiffness-brachydactyly-intellectual disability syndrome
|
ORPHAnet |
0‑L |
108
|
Babesiosis
|
ORPHAnet |
0‑L |
1083
|
Microlissencephaly
|
ORPHAnet |
0‑L |
1084
|
Isolated lissencephaly type 1 without known genetic defects
|
ORPHAnet |
0‑L |
109
|
Bannayan-Riley-Ruvalcaba syndrome
|
ORPHAnet |
0‑L |
1094
|
Anonychia-microcephaly syndrome
|
ORPHAnet |
0‑L |
11
|
Pentasomy X
|
ORPHAnet |
0‑L |
110
|
Bardet-Biedl syndrome
|
ORPHAnet |
0‑L |
1101
|
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
|
ORPHAnet |
0‑L |
1104
|
Anophthalmia plus syndrome
|
ORPHAnet |
0‑L |
1106
|
Microphthalmia with limb anomalies
|
ORPHAnet |
0‑L |
111
|
Barth syndrome
|
ORPHAnet |
0‑L |
1110
|
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
|
ORPHAnet |
0‑L |
1112
|
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
|
ORPHAnet |
0‑L |
1113
|
Aphalangy-syndactyly-microcephaly syndrome
|
ORPHAnet |
0‑L |
1114
|
Aplasia cutis congenita
|
ORPHAnet |
0‑L |
1116
|
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
|
ORPHAnet |
0‑L |
1117
|
Aplasia cutis-myopia syndrome
|
ORPHAnet |
0‑L |
1118
|
Fibular aplasia-ectrodactyly syndrome
|
ORPHAnet |
0‑L |
112
|
Bartter syndrome
|
ORPHAnet |
0‑L |
1120
|
Lung agenesis-heart defect-thumb anomalies syndrome
|
ORPHAnet |
0‑L |
1121
|
Radial deficiency-tibial hypoplasia syndrome
|
ORPHAnet |
0‑L |
1122
|
Ulnar hypoplasia-split foot syndrome
|
ORPHAnet |
0‑L |
1123
|
Caudal appendage-deafness syndrome
|
ORPHAnet |
0‑L |
1125
|
Ocular motor apraxia, Cogan type
|
ORPHAnet |
0‑L |
1126
|
Aprosencephaly cerebellar dysgenesis
|
ORPHAnet |
0‑L |
1129
|
Arachnodactyly-abnormal ossification-intellectual disability syndrome
|
ORPHAnet |
0‑L |
113
|
Bazex-Dupré-Christol syndrome
|
ORPHAnet |
0‑L |
1130
|
Arachnodactyly-intellectual disability-dysmorphism syndrome
|
ORPHAnet |
0‑L |
1131
|
X-linked mandibulofacial dysostosis
|
ORPHAnet |
0‑L |
1133
|
AREDYLD syndrome
|
ORPHAnet |
0‑L |
1134
|
Isolated arrhinia
|
ORPHAnet |
0‑L |
1135
|
Arrhinia-choanal atresia-microphthalmia syndrome
|
ORPHAnet |
0‑L |
114
|
Auriculoosteodysplasia
|
ORPHAnet |
0‑L |
1143
|
Neurogenic arthrogryposis multiplex congenita
|
ORPHAnet |
0‑L |
1144
|
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
|
ORPHAnet |
0‑L |
1145
|
Infantile-onset X-linked spinal muscular atrophy
|
ORPHAnet |
0‑L |
1146
|
Distal arthrogryposis type 1
|
ORPHAnet |
0‑L |
1147
|
Sheldon-Hall syndrome
|
ORPHAnet |
0‑L |
1149
|
Kuskokwim syndrome
|
ORPHAnet |
0‑L |
115
|
Congenital contractural arachnodactyly
|
ORPHAnet |
0‑L |
1150
|
Arthrogryposis multiplex congenita-whistling face syndrome
|
ORPHAnet |
0‑L |
1154
|
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
|
ORPHAnet |
0‑L |
1159
|
Progressive pseudorheumatoid arthropathy of childhood
|
ORPHAnet |
0‑L |
116
|
Beckwith-Wiedemann syndrome
|
ORPHAnet |
0‑L |
1160
|
Chylous ascites
|
ORPHAnet |
0‑L |
1163
|
Aspergillosis
|
ORPHAnet |
0‑L |
1164
|
Allergic bronchopulmonary aspergillosis
|
ORPHAnet |
0‑L |
1166
|
Congenital unilateral hypoplasia of depressor anguli oris
|
ORPHAnet |
0‑L |
1168
|
Ataxia-oculomotor apraxia type 1
|
ORPHAnet |
0‑L |
117
|
Behçet disease
|
ORPHAnet |
0‑L |
1170
|
Autosomal recessive cerebelloparenchymal disorder type 3
|
ORPHAnet |
0‑L |
1171
|
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
|
ORPHAnet |
0‑L |
1173
|
Cerebellar ataxia-hypogonadism syndrome
|
ORPHAnet |
0‑L |
1174
|
Cerebellar ataxia-ectodermal dysplasia syndrome
|
ORPHAnet |
0‑L |
1175
|
X-linked progressive cerebellar ataxia
|
ORPHAnet |
0‑L |
1177
|
Early-onset cerebellar ataxia with retained tendon reflexes
|
ORPHAnet |
0‑L |
1178
|
Ataxia-tapetoretinal degeneration syndrome
|
ORPHAnet |
0‑L |
1179
|
Benign paroxysmal tonic upgaze of childhood with ataxia
|
ORPHAnet |
0‑L |
118
|
Beta-mannosidosis
|
ORPHAnet |
0‑L |
1180
|
Ataxia-hypogonadism-choroidal dystrophy syndrome
|
ORPHAnet |
0‑L |
1182
|
Spastic ataxia with congenital miosis
|
ORPHAnet |
0‑L |
1183
|
Opsoclonus-myoclonus syndrome
|
ORPHAnet |
0‑L |
1184
|
Ataxia-photosensitivity-short stature syndrome
|
ORPHAnet |
0‑L |
1185
|
Spinocerebellar ataxia-dysmorphism syndrome
|
ORPHAnet |
0‑L |
1186
|
Infantile-onset spinocerebellar ataxia
|
ORPHAnet |
0‑L |
1187
|
Lethal ataxia with deafness and optic atrophy
|
ORPHAnet |
0‑L |
1188
|
Ataxia-deafness-intellectual disability syndrome
|
ORPHAnet |
0‑L |
119
|
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
|
ORPHAnet |
0‑L |
1190
|
Atelosteogenesis type I
|
ORPHAnet |
0‑L |
1192
|
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
|
ORPHAnet |
0‑L |
1193
|
Atkin-Flaitz syndrome
|
ORPHAnet |
0‑L |
1194
|
TMEM70-related mitochondrial encephalo-cardio-myopathy
|
ORPHAnet |
0‑L |
1195
|
Congenital atransferrinemia
|
ORPHAnet |
0‑L |
1198
|
Colonic atresia
|
ORPHAnet |
0‑L |
1199
|
Esophageal atresia
|
ORPHAnet |
0‑L |
1200
|
Burn-McKeown syndrome
|
ORPHAnet |
0‑L |
1201
|
Small bowel atresia
|
ORPHAnet |
0‑L |
1202
|
Larynx atresia
|
ORPHAnet |
0‑L |
1203
|
Duodenal atresia
|
ORPHAnet |
0‑L |
1205
|
Mitral atresia
|
ORPHAnet |
0‑L |
1207
|
Pulmonary atresia with ventricular septal defect
|
ORPHAnet |
0‑L |
1208
|
Pulmonary atresia-intact ventricular septum syndrome
|
ORPHAnet |
0‑L |
1209
|
Tricuspid atresia
|
ORPHAnet |
0‑L |
1214
|
Progressive hemifacial atrophy
|
ORPHAnet |
0‑L |
1215
|
Autosomal dominant optic atrophy plus syndrome
|
ORPHAnet |
0‑L |
1216
|
Autosomal dominant congenital benign spinal muscular atrophy
|
ORPHAnet |
0‑L |
1217
|
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
|
ORPHAnet |
0‑L |
122
|
Birt-Hogg-Dubé syndrome
|
ORPHAnet |
0‑L |
1221
|
Cheilitis glandularis
|
ORPHAnet |
0‑L |
1223
|
Balantidiasis
|
ORPHAnet |
0‑L |
1225
|
Baller-Gerold syndrome
|
ORPHAnet |
0‑L |
1226
|
Bamforth-Lazarus syndrome
|
ORPHAnet |
0‑L |
1227
|
Bangstad syndrome
|
ORPHAnet |
0‑L |
1228
|
Banki syndrome
|
ORPHAnet |
0‑L |
1229
|
Congenital intrauterine infection-like syndrome
|
ORPHAnet |
0‑L |
123
|
Björnstad syndrome
|
ORPHAnet |
0‑L |
1231
|
Barber-Say syndrome
|
ORPHAnet |
0‑L |
1234
|
Bartsocas-Papas syndrome
|
ORPHAnet |
0‑L |
1236
|
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
|
ORPHAnet |
0‑L |
1237
|
Beemer-Ertbruggen syndrome
|
ORPHAnet |
0‑L |
124
|
Diamond-Blackfan anemia
|
ORPHAnet |
0‑L |
1240
|
Metaphyseal acroscyphodysplasia
|
ORPHAnet |
0‑L |
1241
|
Bencze syndrome
|
ORPHAnet |
0‑L |
1243
|
Best vitelliform macular dystrophy
|
ORPHAnet |
0‑L |
1246
|
Brachydactyly-nystagmus-cerebellar ataxia syndrome
|
ORPHAnet |
0‑L |
1247
|
Schistosomiasis
|
ORPHAnet |
0‑L |
1248
|
Maxillonasal dysplasia
|
ORPHAnet |
0‑L |
125
|
Bloom syndrome
|
ORPHAnet |
0‑L |
1252
|
Blepharonasofacial malformation syndrome
|
ORPHAnet |
0‑L |
1253
|
Ascher syndrome
|
ORPHAnet |
0‑L |
1259
|
Blepharoptosis-myopia-ectopia lentis syndrome
|
ORPHAnet |
0‑L |
126
|
Blepharophimosis-ptosis-epicanthus inversus syndrome
|
ORPHAnet |
0‑L |
1261
|
Bonnemann-Meinecke-Reich syndrome
|
ORPHAnet |
0‑L |
1262
|
Böök syndrome
|
ORPHAnet |
0‑L |
1263
|
Boomerang dysplasia
|
ORPHAnet |
0‑L |
1264
|
Tricho-retino-dento-digital syndrome
|
ORPHAnet |
0‑L |
1267
|
Botulism
|
ORPHAnet |
0‑L |
127
|
Borjeson-Forssman-Lehmann syndrome
|
ORPHAnet |
0‑L |
1270
|
Bowen-Conradi syndrome
|
ORPHAnet |
0‑L |
1272
|
Aymé-Gripp syndrome
|
ORPHAnet |
0‑L |
1275
|
Brachydactyly-elbow wrist dysplasia syndrome
|
ORPHAnet |
0‑L |
1276
|
Brachydactyly-arterial hypertension syndrome
|
ORPHAnet |
0‑L |
1277
|
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
|
ORPHAnet |
0‑L |
1278
|
Brachydactyly-preaxial hallux varus syndrome
|
ORPHAnet |
0‑L |
128
|
Diphyllobothriasis
|
ORPHAnet |
0‑L |
129
|
Pseudopelade of Brocq
|
ORPHAnet |
0‑L |
1292
|
Brachymorphism-onychodysplasia-dysphalangism syndrome
|
ORPHAnet |
0‑L |
1295
|
Brachytelephalangy-dysmorphism-Kallmann syndrome
|
ORPHAnet |
0‑L |
1296
|
Lambert syndrome
|
ORPHAnet |
0‑L |
1297
|
Branchio-oculo-facial syndrome
|
ORPHAnet |
0‑L |
1299
|
Branchioskeletogenital syndrome
|
ORPHAnet |
0‑L |
13
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
ORPHAnet |
0‑L |
130
|
Brugada syndrome
|
ORPHAnet |
0‑L |
1300
|
Autosomal dominant popliteal pterygium syndrome
|
ORPHAnet |
0‑L |
1302
|
Cryptogenic organizing pneumonia
|
ORPHAnet |
0‑L |
1303
|
Bronchiolitis obliterans with obstructive pulmonary disease
|
ORPHAnet |
0‑L |
1304
|
Brucellosis
|
ORPHAnet |
0‑L |
1305
|
Feingold syndrome
|
ORPHAnet |
0‑L |
1307
|
Distal limb deficiencies-micrognathia syndrome
|
ORPHAnet |
0‑L |
1308
|
C syndrome
|
ORPHAnet |
0‑L |
1309
|
Medullary sponge kidney
|
ORPHAnet |
0‑L |
131
|
Budd-Chiari syndrome
|
ORPHAnet |
0‑L |
1310
|
Caffey disease
|
ORPHAnet |
0‑L |
1313
|
Infantile choroidocerebral calcification syndrome
|
ORPHAnet |
0‑L |
1314
|
Symmetrical thalamic calcifications
|
ORPHAnet |
0‑L |
1318
|
Campomelia, Cumming type
|
ORPHAnet |
0‑L |
1319
|
Camptobrachydactyly
|
ORPHAnet |
0‑L |
132
|
Butyrylcholinesterase deficiency
|
ORPHAnet |
0‑L |
1320
|
Idiopathic camptocormia
|
ORPHAnet |
0‑L |
1321
|
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
|
ORPHAnet |
0‑L |
1323
|
Camptodactyly-joint contractures-facial skeletal defects syndrome
|
ORPHAnet |
0‑L |
1325
|
Camptodactyly-taurinuria syndrome
|
ORPHAnet |
0‑L |
1326
|
Camptodactyly syndrome, Guadalajara type 2
|
ORPHAnet |
0‑L |
1327
|
Camptodactyly syndrome, Guadalajara type 1
|
ORPHAnet |
0‑L |
1328
|
Camurati-Engelmann disease
|
ORPHAnet |
0‑L |
1329
|
Complete atrioventricular septal defect
|
ORPHAnet |
0‑L |
133
|
Chronic beryllium disease
|
ORPHAnet |
0‑L |
1330
|
Partial atrioventricular septal defect
|
ORPHAnet |
0‑L |
1331
|
Familial prostate cancer
|
ORPHAnet |
0‑L |
1332
|
Medullary thyroid carcinoma
|
ORPHAnet |
0‑L |
1333
|
Familial pancreatic carcinoma
|
ORPHAnet |
0‑L |
1334
|
Chronic mucocutaneous candidiasis
|
ORPHAnet |
0‑L |
1335
|
Pentalogy of Cantrell
|
ORPHAnet |
0‑L |
1336
|
Hyperkeratosis-hyperpigmentation syndrome
|
ORPHAnet |
0‑L |
1338
|
Heart defect-tongue hamartoma-polysyndactyly syndrome
|
ORPHAnet |
0‑L |
134
|
Beta-ketothiolase deficiency
|
ORPHAnet |
0‑L |
1340
|
Cardiofaciocutaneous syndrome
|
ORPHAnet |
0‑L |
1342
|
Heart-hand syndrome type 3
|
ORPHAnet |
0‑L |
1344
|
Atrial standstill
|
ORPHAnet |
0‑L |
1345
|
Cardiomyopathy-cataract-hip spine disease syndrome
|
ORPHAnet |
0‑L |
1349
|
Mitochondrial DNA-related cardiomyopathy and hearing loss
|
ORPHAnet |
0‑L |
135
|
CACH syndrome
|
ORPHAnet |
0‑L |
1350
|
Heart-hand syndrome type 2
|
ORPHAnet |
0‑L |
1352
|
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
|
ORPHAnet |
0‑L |
1354
|
Heart defects-limb shortening syndrome
|
ORPHAnet |
0‑L |
1355
|
Congenital heart defect-round face-developmental delay syndrome
|
ORPHAnet |
0‑L |
1358
|
Carey-Fineman-Ziter syndrome
|
ORPHAnet |
0‑L |
1359
|
Carney complex
|
ORPHAnet |
0‑L |
136
|
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
|
ORPHAnet |
0‑L |
1361
|
Carnosinase deficiency
|
ORPHAnet |
0‑L |
1366
|
Autosomal recessive palmoplantar keratoderma and congenital alopecia
|
ORPHAnet |
0‑L |
1368
|
Cataract-ataxia-deafness syndrome
|
ORPHAnet |
0‑L |
1369
|
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
|
ORPHAnet |
0‑L |
1373
|
Cataract-aberrant oral frenula-growth delay syndrome
|
ORPHAnet |
0‑L |
1375
|
Cataract-hypertrichosis-intellectual disability syndrome
|
ORPHAnet |
0‑L |
137577
|
Neonatal hypoxic and ischemic brain injury
|
ORPHAnet |
0‑L |
137583
|
Vulvar intraepithelial neoplasia
|
ORPHAnet |
0‑L |
137593
|
Infectious epithelial keratitis
|
ORPHAnet |
0‑L |
137596
|
Neurotrophic keratopathy
|
ORPHAnet |
0‑L |
137599
|
Herpes simplex virus stromal keratitis
|
ORPHAnet |
0‑L |
137602
|
Corneal endotheliitis
|
ORPHAnet |
0‑L |
137605
|
Legius syndrome
|
ORPHAnet |
0‑L |
137608
|
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
|
ORPHAnet |
0‑L |
137617
|
Nephrogenic systemic fibrosis
|
ORPHAnet |
0‑L |
137622
|
Intractable diarrhea-choanal atresia-eye anomalies syndrome
|
ORPHAnet |
0‑L |
137625
|
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
|
ORPHAnet |
0‑L |
137628
|
Cardiac anomalies-heterotaxy syndrome
|
ORPHAnet |
0‑L |
137631
|
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
|
ORPHAnet |
0‑L |
137634
|
Overgrowth-macrocephaly-facial dysmorphism syndrome
|
ORPHAnet |
0‑L |
137639
|
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
|
ORPHAnet |
0‑L |
137667
|
Capillary malformation-arteriovenous malformation
|
ORPHAnet |
0‑L |
137672
|
Pellucid marginal degeneration
|
ORPHAnet |
0‑L |
137675
|
Histiocytoid cardiomyopathy
|
ORPHAnet |
0‑L |
137678
|
Spondyloepiphyseal dysplasia with metatarsal shortening
|
ORPHAnet |
0‑L |
137681
|
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
|
ORPHAnet |
0‑L |
137686
|
Asherman syndrome
|
ORPHAnet |
0‑L |
137698
|
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at
risk
|
ORPHAnet |
0‑L |
1377
|
Cataract-microcornea syndrome
|
ORPHAnet |
0‑L |
137754
|
Neurological conditions associated with aminoacylase 1 deficiency
|
ORPHAnet |
0‑L |
137776
|
Lethal congenital contracture syndrome type 2
|
ORPHAnet |
0‑L |
137783
|
Lethal congenital contracture syndrome type 3
|
ORPHAnet |
0‑L |
137810
|
Nodular cutaneous amyloidosis
|
ORPHAnet |
0‑L |
137814
|
Macular amyloidosis
|
ORPHAnet |
0‑L |
137817
|
Arachnoiditis
|
ORPHAnet |
0‑L |
137820
|
Extrapelvic endometriosis
|
ORPHAnet |
0‑L |
137831
|
X-linked intellectual disability-cerebellar hypoplasia syndrome
|
ORPHAnet |
0‑L |
137834
|
Frank-Ter Haar syndrome
|
ORPHAnet |
0‑L |
137839
|
Lemierre syndrome
|
ORPHAnet |
0‑L |
137867
|
Madras motor neuron disease
|
ORPHAnet |
0‑L |
137888
|
Auriculocondylar syndrome
|
ORPHAnet |
0‑L |
137893
|
Male infertility due to large-headed multiflagellar polyploid spermatozoa
|
ORPHAnet |
0‑L |
137898
|
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
ORPHAnet |
0‑L |
137908
|
Hypotonia with lactic acidemia and hyperammonemia
|
ORPHAnet |
0‑L |
137914
|
Choanal atresia
|
ORPHAnet |
0‑L |
137917
|
Choanal atresia, unilateral
|
ORPHAnet |
0‑L |
137920
|
Choanal atresia, bilateral
|
ORPHAnet |
0‑L |
137926
|
Primary laryngeal lymphangioma
|
ORPHAnet |
0‑L |
137929
|
Neonatal brainstem dysfunction
|
ORPHAnet |
0‑L |
137932
|
Congenital laryngeal palsy
|
ORPHAnet |
0‑L |
137935
|
Laryngotracheal angioma
|
ORPHAnet |
0‑L |
138
|
CHARGE syndrome
|
ORPHAnet |
0‑L |
1380
|
Cataract-nephropathy-encephalopathy syndrome
|
ORPHAnet |
0‑L |
1381
|
Cataract-intellectual disability-anal atresia-urinary defects syndrome
|
ORPHAnet |
0‑L |
1383
|
Cataract-deafness-hypogonadism syndrome
|
ORPHAnet |
0‑L |
1387
|
Cataract-intellectual disability-hypogonadism syndrome
|
ORPHAnet |
0‑L |
1388
|
Catel-Manzke syndrome
|
ORPHAnet |
0‑L |
1389
|
Cortical blindness-intellectual disability-polydactyly syndrome
|
ORPHAnet |
0‑L |
139
|
CHILD syndrome
|
ORPHAnet |
0‑L |
1390
|
Night blindness-skeletal anomalies-dysmorphism syndrome
|
ORPHAnet |
0‑L |
1393
|
Cerebrocostomandibular syndrome
|
ORPHAnet |
0‑L |
139396
|
X-linked cerebral adrenoleukodystrophy
|
ORPHAnet |
0‑L |
139399
|
Adrenomyeloneuropathy
|
ORPHAnet |
0‑L |
1394
|
Cerebrofaciothoracic dysplasia
|
ORPHAnet |
0‑L |
139402
|
Drug reaction with eosinophilia and systemic symptoms
|
ORPHAnet |
0‑L |
139406
|
Encephalopathy due to prosaposin deficiency
|
ORPHAnet |
0‑L |
139411
|
Carney triad
|
ORPHAnet |
0‑L |
139414
|
Congenital panfollicular nevus
|
ORPHAnet |
0‑L |
139417
|
Acute transverse myelitis
|
ORPHAnet |
0‑L |
139423
|
Idiopathic acute transverse myelitis
|
ORPHAnet |
0‑L |
139426
|
Perioral myoclonia with absences
|
ORPHAnet |
0‑L |
139431
|
Jeavons syndrome
|
ORPHAnet |
0‑L |
139436
|
Multicentric reticulohistiocytosis
|
ORPHAnet |
0‑L |
139441
|
Hypomyelination with atrophy of basal ganglia and cerebellum
|
ORPHAnet |
0‑L |
139444
|
Leukoencephalopathy with bilateral anterior temporal lobe cysts
|
ORPHAnet |
0‑L |
139447
|
Progressive cavitating leukoencephalopathy
|
ORPHAnet |
0‑L |
139450
|
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
|
ORPHAnet |
0‑L |
139455
|
Autosomal recessive bestrophinopathy
|
ORPHAnet |
0‑L |
139466
|
SERKAL syndrome
|
ORPHAnet |
0‑L |
139471
|
Microphthalmia with brain and digit anomalies
|
ORPHAnet |
0‑L |
139474
|
17q11.2 microduplication syndrome
|
ORPHAnet |
0‑L |
139480
|
Autosomal recessive spastic paraplegia type 39
|
ORPHAnet |
0‑L |
139485
|
Autosomal recessive ataxia due to ubiquinone deficiency
|
ORPHAnet |
0‑L |
139507
|
Dietary iron overload disease
|
ORPHAnet |
0‑L |
139512
|
Neuropathy with hearing impairment
|
ORPHAnet |
0‑L |
139515
|
Charcot-Marie-Tooth disease type 4J
|
ORPHAnet |
0‑L |
139518
|
Distal hereditary motor neuropathy type 1
|
ORPHAnet |
0‑L |
139525
|
Distal hereditary motor neuropathy type 2
|
ORPHAnet |
0‑L |
139536
|
Distal hereditary motor neuropathy type 5
|
ORPHAnet |
0‑L |
139547
|
Distal spinal muscular atrophy type 3
|
ORPHAnet |
0‑L |
139552
|
Distal hereditary motor neuropathy, Jerash type
|
ORPHAnet |
0‑L |
139557
|
X-linked distal spinal muscular atrophy type 3
|
ORPHAnet |
0‑L |
139564
|
Hereditary sensory and autonomic neuropathy type 1B
|
ORPHAnet |
0‑L |
139573
|
Hereditary sensory and autonomic neuropathy with deafness and global delay
|
ORPHAnet |
0‑L |
139578
|
Mutilating hereditary sensory neuropathy with spastic paraplegia
|
ORPHAnet |
0‑L |
139583
|
X-linked hereditary sensory and autonomic neuropathy with deafness
|
ORPHAnet |
0‑L |
139589
|
Distal hereditary motor neuropathy type 7
|
ORPHAnet |
0‑L |
1397
|
Hydrocephaly-cerebellar agenesis syndrome
|
ORPHAnet |
0‑L |
1398
|
Isolated cerebellar agenesis
|
ORPHAnet |
0‑L |
1399
|
Richards-Rundle syndrome
|
ORPHAnet |
0‑L |
14
|
Abetalipoproteinemia
|
ORPHAnet |
0‑L |
140
|
Campomelic dysplasia
|
ORPHAnet |
0‑L |
1401
|
CHAND syndrome
|
ORPHAnet |
0‑L |
140286
|
Secondary hypoparathyroidism due to impaired parathormon secretion
|
ORPHAnet |
0‑L |
140436
|
Primary intraosseous venous malformation
|
ORPHAnet |
0‑L |
140481
|
Autosomal dominant slowed nerve conduction velocity
|
ORPHAnet |
0‑L |
1406
|
Charlie M syndrome
|
ORPHAnet |
0‑L |
140896
|
Severe acute respiratory syndrome
|
ORPHAnet |
0‑L |
140905
|
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
|
ORPHAnet |
0‑L |
140908
|
Brachydactyly type B2
|
ORPHAnet |
0‑L |
140917
|
Stapes ankylosis with broad thumbs and toes
|
ORPHAnet |
0‑L |
140922
|
Titin-related limb-girdle muscular dystrophy R10
|
ORPHAnet |
0‑L |
140927
|
Benign familial neonatal-infantile seizures
|
ORPHAnet |
0‑L |
140933
|
Linear atrophoderma of Moulin
|
ORPHAnet |
0‑L |
140936
|
Lelis syndrome
|
ORPHAnet |
0‑L |
140941
|
Short stature due to primary acid-labile subunit deficiency
|
ORPHAnet |
0‑L |
140944
|
CLOVES syndrome
|
ORPHAnet |
0‑L |
140949
|
Low-flow priapism
|
ORPHAnet |
0‑L |
140952
|
Syndactyly-telecanthus-anogenital and renal malformations syndrome
|
ORPHAnet |
0‑L |
140957
|
Autosomal dominant macrothrombocytopenia
|
ORPHAnet |
0‑L |
140963
|
Bilateral microtia-deafness-cleft palate syndrome
|
ORPHAnet |
0‑L |
140966
|
Palmoplantar keratoderma, Nagashima type
|
ORPHAnet |
0‑L |
140969
|
Saldino-Mainzer syndrome
|
ORPHAnet |
0‑L |
140976
|
RHYNS syndrome
|
ORPHAnet |
0‑L |
140989
|
Primary angiitis of the central nervous system
|
ORPHAnet |
0‑L |
141
|
Canavan disease
|
ORPHAnet |
0‑L |
1410
|
Uncombable hair syndrome
|
ORPHAnet |
0‑L |
141000
|
Orofaciodigital syndrome type 11
|
ORPHAnet |
0‑L |
141007
|
Orofaciodigital syndrome type 9
|
ORPHAnet |
0‑L |
141013
|
First branchial cleft anomaly
|
ORPHAnet |
0‑L |
141022
|
Second branchial cleft anomaly
|
ORPHAnet |
0‑L |
141030
|
Third branchial cleft anomaly
|
ORPHAnet |
0‑L |
141037
|
Fourth branchial cleft anomaly
|
ORPHAnet |
0‑L |
141046
|
Cervical dermoid cyst
|
ORPHAnet |
This value set has 7325 codes in it. In order to keep the publication size manageable,
only a selection (500 codes) of the whole set of codes is shown.
|
|