ABCDEFGHI
1
ConceptId FSN SemTag
ReferencedComponentId
 Lang AnnotationId AnnotationType
AnnotationValue
 Annotation
2
122988200311q22.2q22.3 microdeletion syndrome (disorder)(disorder)1229882003en5dff4e6e-09f6-49eb-923a-8ff55513d819Attribution (attribute)Inserm Orphanet
[AN]:5dff4e6e-09f6-49eb-923a-8ff55513d819 - [ SCTID=1229882003, type=1295448001, value 'Inserm Orphanet' ]
3
123483000514q32 duplication syndrome (disorder)(disorder)1234830005en
69648803-23c8-4530-9e91-25f9d0096344
Attribution (attribute)Inserm Orphanet
[AN]:69648803-23c8-4530-9e91-25f9d0096344 - [ SCTID=1234830005, type=1295448001, value 'Inserm Orphanet' ]
4
125145000616p12.1p12.3 triplication syndrome (disorder)(disorder)1251450006endded542c-a13a-4e5e-bdea-18ff27577235Attribution (attribute)Inserm Orphanet
[AN]:dded542c-a13a-4e5e-bdea-18ff27577235 - [ SCTID=1251450006, type=1295448001, value 'Inserm Orphanet' ]
5
122889000516p13.2 microdeletion syndrome (disorder)(disorder)1228890005en
85e90c41-2e45-467a-b997-79521d2f9a33
Attribution (attribute)Inserm Orphanet
[AN]:85e90c41-2e45-467a-b997-79521d2f9a33 - [ SCTID=1228890005, type=1295448001, value 'Inserm Orphanet' ]
6
122987300917q24.2 microdeletion syndrome (disorder)(disorder)1229873009en
b4cc4409-9906-474b-b29f-e245866e8cf5
Attribution (attribute)Inserm Orphanet
[AN]:b4cc4409-9906-474b-b29f-e245866e8cf5 - [ SCTID=1229873009, type=1295448001, value 'Inserm Orphanet' ]
7
122988300819p13.3 microduplication syndrome (disorder)(disorder)1229883008en977f357a-eafc-4d72-9e73-2c67a9209df1Attribution (attribute)Inserm Orphanet
[AN]:977f357a-eafc-4d72-9e73-2c67a9209df1 - [ SCTID=1229883008, type=1295448001, value 'Inserm Orphanet' ]
8
12288440021p35.2 microdeletion syndrome (disorder)(disorder)1228844002en
d6c24048-44ea-4645-ada0-824572a8fe30
Attribution (attribute)Inserm Orphanet
[AN]:d6c24048-44ea-4645-ada0-824572a8fe30 - [ SCTID=1228844002, type=1295448001, value 'Inserm Orphanet' ]
9
122989100420q11.2 microdeletion syndrome (disorder)(disorder)1229891004en
de405dfb-193e-4767-b491-e7d4202108ad
Attribution (attribute)Inserm Orphanet
[AN]:de405dfb-193e-4767-b491-e7d4202108ad - [ SCTID=1229891004, type=1295448001, value 'Inserm Orphanet' ]
10
76726300722q11.2 deletion syndrome (disorder)(disorder)767263007c57bd0fe-bef5-4353-9437-dd3223a1c2c0Attribution (attribute)Inserm Orphanet[AN]:c57bd0fe-bef5-4353-9437-dd3223a1c2c0 - [ SCTID=767263007, type=1295448001, value 'Inserm Orphanet' ]
11
12226710093-methylglutaconic aciduria type 8 (disorder)(disorder)1222671009en
066183c4-7862-4d80-8919-a2b49e16f716
Attribution (attribute)Inserm Orphanet
[AN]:066183c4-7862-4d80-8919-a2b49e16f716 - [ SCTID=1222671009, type=1295448001, value 'Inserm Orphanet' ]
12
12226720023-methylglutaconic aciduria type 9 (disorder)(disorder)1222672002en
948edda6-2823-4bc9-9292-a59bc3a16bff
Attribution (attribute)Inserm Orphanet
[AN]:948edda6-2823-4bc9-9292-a59bc3a16bff - [ SCTID=1222672002, type=1295448001, value 'Inserm Orphanet' ]
13
123734500246,XX ovarian dysgenesis, short stature syndrome (disorder)(disorder)1237345002en
58b2a55c-22cc-4aeb-a267-85ace1c3c579
Attribution (attribute)Inserm Orphanet
[AN]:58b2a55c-22cc-4aeb-a267-85ace1c3c579 - [ SCTID=1237345002, type=1295448001, value 'Inserm Orphanet' ]
14
123490600946,XX ovotesticular disorder of sex development (disorder)(disorder)1234906009en
9086156a-f7b5-4eea-8482-3bbff7884b5b
Attribution (attribute)Inserm Orphanet
[AN]:9086156a-f7b5-4eea-8482-3bbff7884b5b - [ SCTID=1234906009, type=1295448001, value 'Inserm Orphanet' ]
15
123128100946,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)(disorder)1231281009en
ef21403d-0c9d-493a-ac65-438e5af151c5
Attribution (attribute)Inserm Orphanet
[AN]:ef21403d-0c9d-493a-ac65-438e5af151c5 - [ SCTID=1231281009, type=1295448001, value 'Inserm Orphanet' ]
16
12089330004H leukodystrophy (disorder)(disorder)1208933000ena42ca520-82da-4f3c-be54-a8dc002d95dfAttribution (attribute)Inserm Orphanet
[AN]:a42ca520-82da-4f3c-be54-a8dc002d95df - [ SCTID=1208933000, type=1295448001, value 'Inserm Orphanet' ]
17
12514520034q25 proximal deletion syndrome (disorder)(disorder)1251452003en
e5db1e00-5f83-403c-90d1-d2c9823bacc0
Attribution (attribute)Inserm Orphanet
[AN]:e5db1e00-5f83-403c-90d1-d2c9823bacc0 - [ SCTID=1251452003, type=1295448001, value 'Inserm Orphanet' ]
18
12298950088q24.3 microdeletion syndrome (disorder)(disorder)1229895008en
4e0d6cc5-7404-4b6a-87ef-cc95666832e4
Attribution (attribute)Inserm Orphanet
[AN]:4e0d6cc5-7404-4b6a-87ef-cc95666832e4 - [ SCTID=1229895008, type=1295448001, value 'Inserm Orphanet' ]
19
12298750029q21.13 microdeletion syndrome (disorder)(disorder)1229875002en
cd7b59a6-e8ed-40f9-b17c-396cb679a449
Attribution (attribute)Inserm Orphanet
[AN]:cd7b59a6-e8ed-40f9-b17c-396cb679a449 - [ SCTID=1229875002, type=1295448001, value 'Inserm Orphanet' ]
20
12288860089q33.3q34.11 microdeletion syndrome (disorder)(disorder)1228886008en
09a8bdc5-a558-4d93-b2d1-87bd6a7008ac
Attribution (attribute)Inserm Orphanet
[AN]:09a8bdc5-a558-4d93-b2d1-87bd6a7008ac - [ SCTID=1228886008, type=1295448001, value 'Inserm Orphanet' ]
21
1231149005AH amyloidosis (disorder)(disorder)1231149005enfd349db9-ff9d-4077-a2f6-fc8b0ed1616fAttribution (attribute)Inserm Orphanet
[AN]:fd349db9-ff9d-4077-a2f6-fc8b0ed1616f - [ SCTID=1231149005, type=1295448001, value 'Inserm Orphanet' ]
22
1197746001AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)(disorder)1197746001enf77e3bb2-ebaa-4277-920f-283a6ce7e6b6Attribution (attribute)Inserm Orphanet
[AN]:f77e3bb2-ebaa-4277-920f-283a6ce7e6b6 - [ SCTID=1197746001, type=1295448001, value 'Inserm Orphanet' ]
23
1187643003Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)(disorder)1187643003en7f3073f1-5a2c-47bc-93d6-f96e9361d704Attribution (attribute)Inserm Orphanet
[AN]:7f3073f1-5a2c-47bc-93d6-f96e9361d704 - [ SCTID=1187643003, type=1295448001, value 'Inserm Orphanet' ]
24
1197757006Acute kernicterus of newborn (disorder)(disorder)1197757006en
02561a9f-50ea-43df-ba15-128b651cd867
Attribution (attribute)Inserm Orphanet
[AN]:02561a9f-50ea-43df-ba15-128b651cd867 - [ SCTID=1197757006, type=1295448001, value 'Inserm Orphanet' ]
25
1234824005Acute macular neuroretinopathy (disorder)(disorder)1234824005en
84ebf51f-c86a-4daa-b7ab-1adbab80c041
Attribution (attribute)Inserm Orphanet
[AN]:84ebf51f-c86a-4daa-b7ab-1adbab80c041 - [ SCTID=1234824005, type=1295448001, value 'Inserm Orphanet' ]
26
1157157006Acute myeloid leukemia with 11q23 abnormality (disorder)(disorder)1157157006en420afd69-93a3-4523-9571-896fe9f322e0Attribution (attribute)Inserm Orphanet
[AN]:420afd69-93a3-4523-9571-896fe9f322e0 - [ SCTID=1157157006, type=1295448001, value 'Inserm Orphanet' ]
27
1237368006Acute myeloid leukemia with BCR-ABL1 (disorder)(disorder)1237368006en
1aa6bbcc-e291-4738-8262-fc612ca19592
Attribution (attribute)Inserm Orphanet
[AN]:1aa6bbcc-e291-4738-8262-fc612ca19592 - [ SCTID=1237368006, type=1295448001, value 'Inserm Orphanet' ]
28
1260191006Acute radiation syndrome (disorder)(disorder)1260191006en
eabe810d-2958-4240-9169-fb97609a3f65
Attribution (attribute)Inserm Orphanet
[AN]:eabe810d-2958-4240-9169-fb97609a3f65 - [ SCTID=1260191006, type=1295448001, value 'Inserm Orphanet' ]
29
1264003007Acute right ventricular failure following incision of heart (disorder)(disorder)1264003007enb54f937d-3fab-4490-8f42-b20a733e8770Attribution (attribute)Inserm Orphanet
[AN]:b54f937d-3fab-4490-8f42-b20a733e8770 - [ SCTID=1264003007, type=1295448001, value 'Inserm Orphanet' ]
30
1264458000Acute undifferentiated leukemia (disorder)(disorder)1264458000en9a8be01c-6f71-4c90-9cf9-f01abda9f177Attribution (attribute)Inserm Orphanet
[AN]:9a8be01c-6f71-4c90-9cf9-f01abda9f177 - [ SCTID=1264458000, type=1295448001, value 'Inserm Orphanet' ]
31
1264007008Adenovirus infection in immunocompromised person (disorder)(disorder)1264007008en
79d3833b-7031-42cd-9b8a-f7905b0a3295
Attribution (attribute)Inserm Orphanet
[AN]:79d3833b-7031-42cd-9b8a-f7905b0a3295 - [ SCTID=1264007008, type=1295448001, value 'Inserm Orphanet' ]
32
1172694007Adenylosuccinate synthetase-like 1-related distal myopathy (disorder)(disorder)1172694007en
52daa7cb-f861-4cde-96bd-db510991ad75
Attribution (attribute)Inserm Orphanet
[AN]:52daa7cb-f861-4cde-96bd-db510991ad75 - [ SCTID=1172694007, type=1295448001, value 'Inserm Orphanet' ]
33
1197204009Adult hepatocellular carcinoma (disorder)(disorder)1197204009en
a7a60d0b-294b-4deb-a657-0d7a1089556c
Attribution (attribute)Inserm Orphanet
[AN]:a7a60d0b-294b-4deb-a657-0d7a1089556c - [ SCTID=1197204009, type=1295448001, value 'Inserm Orphanet' ]
34
1231749004Adult-onset overlap myositis (disorder)(disorder)1231749004en
78b69048-a105-4f77-b8b5-623af51daa4b
Attribution (attribute)Inserm Orphanet
[AN]:78b69048-a105-4f77-b8b5-623af51daa4b - [ SCTID=1231749004, type=1295448001, value 'Inserm Orphanet' ]
35
1208720000Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)(disorder)1208720000en
d8d83ae4-72d9-4057-8a34-7b1054eda7a2
Attribution (attribute)Inserm Orphanet
[AN]:d8d83ae4-72d9-4057-8a34-7b1054eda7a2 - [ SCTID=1208720000, type=1295448001, value 'Inserm Orphanet' ]
36
1187130004Agenesis of scrotum (disorder)(disorder)1187130004en
0eb72a81-0bd2-4a8a-803f-4c1b1c980cdd
Attribution (attribute)Inserm Orphanet
[AN]:0eb72a81-0bd2-4a8a-803f-4c1b1c980cdd - [ SCTID=1187130004, type=1295448001, value 'Inserm Orphanet' ]
37
1351836007Alkuraya Kucinskas syndrome (disorder)(disorder)1351836007e12c1f1f-6a08-4d7b-b588-af7ab572c3bbAttribution (attribute)Inserm Orphanet
[AN]:e12c1f1f-6a08-4d7b-b588-af7ab572c3bb - [ SCTID=1351836007, type=1295448001, value 'Inserm Orphanet' ]
38
1197155007Amish nemaline myopathy (disorder)(disorder)1197155007enb42f4a70-6104-445b-8513-ff25f48aeba3Attribution (attribute)Inserm Orphanet
[AN]:b42f4a70-6104-445b-8513-ff25f48aeba3 - [ SCTID=1197155007, type=1295448001, value 'Inserm Orphanet' ]
39
1156412000Angiocentric glioma of central nervous system (disorder)(disorder)1156412000en
0d4d7e70-b75e-480a-8c39-367e3f5bae67
Attribution (attribute)Inserm Orphanet
[AN]:0d4d7e70-b75e-480a-8c39-367e3f5bae67 - [ SCTID=1156412000, type=1295448001, value 'Inserm Orphanet' ]
40
1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)(disorder)1222706005enf37073d0-fb7c-45ab-a90c-7810d63b808cAttribution (attribute)Inserm Orphanet
[AN]:f37073d0-fb7c-45ab-a90c-7810d63b808c - [ SCTID=1222706005, type=1295448001, value 'Inserm Orphanet' ]
41
1228843008Anti-p200 pemphigoid (disorder)(disorder)1228843008en
324a96ec-87a5-4d93-b2c3-290eb9773a4c
Attribution (attribute)Inserm Orphanet
[AN]:324a96ec-87a5-4d93-b2c3-290eb9773a4c - [ SCTID=1228843008, type=1295448001, value 'Inserm Orphanet' ]
42
1187124004Apolipoprotein A-IV amyloidosis (disorder)(disorder)1187124004en
df22b130-5499-455a-bdf0-5e29671df328
Attribution (attribute)Inserm Orphanet
[AN]:df22b130-5499-455a-bdf0-5e29671df328 - [ SCTID=1187124004, type=1295448001, value 'Inserm Orphanet' ]
43
1237366005Aprosencephaly cerebellar dysgenesis (disorder)(disorder)1237366005en
8c1fd91c-2264-4f6c-bb82-88a25491d069
Attribution (attribute)Inserm Orphanet
[AN]:8c1fd91c-2264-4f6c-bb82-88a25491d069 - [ SCTID=1237366005, type=1295448001, value 'Inserm Orphanet' ]
44
1237365009Aprosencephaly/atelencephaly spectrum (disorder)(disorder)1237365009en
1b711532-bb7d-4213-8ff6-3a430b56dded
Attribution (attribute)Inserm Orphanet
[AN]:1b711532-bb7d-4213-8ff6-3a430b56dded - [ SCTID=1237365009, type=1295448001, value 'Inserm Orphanet' ]
45
1169365006Aquagenic palmoplantar keratoderma (disorder)(disorder)1169365006en
e9a6d48a-37da-4cd8-b8aa-ca03de4fac25
Attribution (attribute)Inserm Orphanet
[AN]:e9a6d48a-37da-4cd8-b8aa-ca03de4fac25 - [ SCTID=1169365006, type=1295448001, value 'Inserm Orphanet' ]
46
1172624000Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)(disorder)1172624000en
46021b92-5807-4c55-8ce3-76870bf7d655
Attribution (attribute)Inserm Orphanet
[AN]:46021b92-5807-4c55-8ce3-76870bf7d655 - [ SCTID=1172624000, type=1295448001, value 'Inserm Orphanet' ]
47
1220600004Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)(disorder)1220600004en
0aaca208-72bc-4e0d-a8ea-09348f0bb5bf
Attribution (attribute)Inserm Orphanet
[AN]:0aaca208-72bc-4e0d-a8ea-09348f0bb5bf - [ SCTID=1220600004, type=1295448001, value 'Inserm Orphanet' ]
48
1156470000Atypical papilloma of choroid plexus (disorder)(disorder)1156470000enf59df185-0e9d-4fb1-a78e-94e8f62fc939Attribution (attribute)Inserm Orphanet
[AN]:f59df185-0e9d-4fb1-a78e-94e8f62fc939 - [ SCTID=1156470000, type=1295448001, value 'Inserm Orphanet' ]
49
1222649004Auditory neuropathy, optic atrophy syndrome (disorder)(disorder)1222649004en
fcd5b582-980f-44b3-a49a-1e6b7ed726eb
Attribution (attribute)Inserm Orphanet
[AN]:fcd5b582-980f-44b3-a49a-1e6b7ed726eb - [ SCTID=1222649004, type=1295448001, value 'Inserm Orphanet' ]
50
1222681008Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)(disorder)1222681008en
bfea6897-beb2-47e5-a1ff-b01b356385a9
Attribution (attribute)Inserm Orphanet
[AN]:bfea6897-beb2-47e5-a1ff-b01b356385a9 - [ SCTID=1222681008, type=1295448001, value 'Inserm Orphanet' ]
51
1222679006Autoimmune interstitial lung disease, arthritis syndrome (disorder)(disorder)1222679006en
fc0dcc9b-0250-4468-aab8-dcaa5e983328
Attribution (attribute)Inserm Orphanet
[AN]:fc0dcc9b-0250-4468-aab8-dcaa5e983328 - [ SCTID=1222679006, type=1295448001, value 'Inserm Orphanet' ]
52
1197361002Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder)(disorder)1197361002en7c27c0ac-8ce7-4d83-9b2f-90f407ce6301Attribution (attribute)Inserm Orphanet
[AN]:7c27c0ac-8ce7-4d83-9b2f-90f407ce6301 - [ SCTID=1197361002, type=1295448001, value 'Inserm Orphanet' ]
53
1172684002Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder)(disorder)1172684002en
a9716d6c-d0de-4ba8-ae7e-a80a9cbacdf4
Attribution (attribute)Inserm Orphanet
[AN]:a9716d6c-d0de-4ba8-ae7e-a80a9cbacdf4 - [ SCTID=1172684002, type=1295448001, value 'Inserm Orphanet' ]
54
1187566006Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder)(disorder)1187566006en19fa38f8-dd27-4eb4-b771-72dc66da41f9Attribution (attribute)Inserm Orphanet
[AN]:19fa38f8-dd27-4eb4-b771-72dc66da41f9 - [ SCTID=1187566006, type=1295448001, value 'Inserm Orphanet' ]
55
1187620007Autosomal dominant Charcot-Marie-Tooth disease type 2DD (disorder)(disorder)1187620007en8f72dd9a-f4e7-464c-bb85-ccf0ad0c4bf5Attribution (attribute)Inserm Orphanet
[AN]:8f72dd9a-f4e7-464c-bb85-ccf0ad0c4bf5 - [ SCTID=1187620007, type=1295448001, value 'Inserm Orphanet' ]
56
1187618009Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)(disorder)1187618009en
4e9d8b65-ca9b-42ba-bad9-19e0760f342f
Attribution (attribute)Inserm Orphanet
[AN]:4e9d8b65-ca9b-42ba-bad9-19e0760f342f - [ SCTID=1187618009, type=1295448001, value 'Inserm Orphanet' ]
57
1172634009Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder)(disorder)1172634009en29721a83-94cf-4088-955c-fcff87959a87Attribution (attribute)Inserm Orphanet
[AN]:29721a83-94cf-4088-955c-fcff87959a87 - [ SCTID=1172634009, type=1295448001, value 'Inserm Orphanet' ]
58
1187565005Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder)(disorder)1187565005en
cd18805a-3a61-4c8c-b767-f001518707e7
Attribution (attribute)Inserm Orphanet
[AN]:cd18805a-3a61-4c8c-b767-f001518707e7 - [ SCTID=1187565005, type=1295448001, value 'Inserm Orphanet' ]
59
1187564009Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder)(disorder)1187564009en
4e1ef974-d2e0-47bc-bd11-711a1f139243
Attribution (attribute)Inserm Orphanet
[AN]:4e1ef974-d2e0-47bc-bd11-711a1f139243 - [ SCTID=1187564009, type=1295448001, value 'Inserm Orphanet' ]
60
1208614008Autosomal dominant deafness with onychodystrophy syndrome (disorder)(disorder)1208614008en96354daf-ebeb-42f8-b93a-f5f9d07acfe1Attribution (attribute)Inserm Orphanet
[AN]:96354daf-ebeb-42f8-b93a-f5f9d07acfe1 - [ SCTID=1208614008, type=1295448001, value 'Inserm Orphanet' ]
61
1179294000Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)(disorder)1179294000en5f9b75bc-17aa-4a29-a102-ec29ea22503cAttribution (attribute)Inserm Orphanet
[AN]:5f9b75bc-17aa-4a29-a102-ec29ea22503c - [ SCTID=1179294000, type=1295448001, value 'Inserm Orphanet' ]
62
1231284001Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)(disorder)1231284001en
74240d72-75f0-4183-9588-78e498d966e5
Attribution (attribute)Inserm Orphanet
[AN]:74240d72-75f0-4183-9588-78e498d966e5 - [ SCTID=1231284001, type=1295448001, value 'Inserm Orphanet' ]
63
1255319004Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder)(disorder)1255319004en
c3fc1c5d-dd6b-464a-b47a-07215b70efdc
Attribution (attribute)Inserm Orphanet
[AN]:c3fc1c5d-dd6b-464a-b47a-07215b70efdc - [ SCTID=1255319004, type=1295448001, value 'Inserm Orphanet' ]
64
1222644009Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)(disorder)1222644009en68e8baf9-f95b-4089-8f82-5ba103d23f90Attribution (attribute)Inserm Orphanet
[AN]:68e8baf9-f95b-4089-8f82-5ba103d23f90 - [ SCTID=1222644009, type=1295448001, value 'Inserm Orphanet' ]
65
1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)(disorder)1229999001en
9a227a06-2167-4399-b884-b1d2cbca2837
Attribution (attribute)Inserm Orphanet
[AN]:9a227a06-2167-4399-b884-b1d2cbca2837 - [ SCTID=1229999001, type=1295448001, value 'Inserm Orphanet' ]
66
1264041000Autosomal dominant osteopetrosis type 1 (disorder)(disorder)1264041000en
6c7f040d-43c9-4962-8e13-262c935a44a2
Attribution (attribute)Inserm Orphanet
[AN]:6c7f040d-43c9-4962-8e13-262c935a44a2 - [ SCTID=1264041000, type=1295448001, value 'Inserm Orphanet' ]
67
1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)(disorder)1187115008en724c29c6-3c8c-4c96-9f53-d0399afc3befAttribution (attribute)Inserm Orphanet
[AN]:724c29c6-3c8c-4c96-9f53-d0399afc3bef - [ SCTID=1187115008, type=1295448001, value 'Inserm Orphanet' ]
68
1187468005Autosomal dominant spastic paraplegia type 73 (disorder)(disorder)1187468005en251f0e8c-529f-4eb0-868f-2cb2fcfeff00Attribution (attribute)Inserm Orphanet
[AN]:251f0e8c-529f-4eb0-868f-2cb2fcfeff00 - [ SCTID=1187468005, type=1295448001, value 'Inserm Orphanet' ]
69
1187465008Autosomal dominant spastic paraplegia type 9A (disorder)(disorder)1187465008en
591c192e-3867-4940-9b59-78453b486ac7
Attribution (attribute)Inserm Orphanet
[AN]:591c192e-3867-4940-9b59-78453b486ac7 - [ SCTID=1187465008, type=1295448001, value 'Inserm Orphanet' ]
70
1187466009Autosomal dominant spastic paraplegia type 9B (disorder)(disorder)1187466009en
bf6298da-973d-4892-8a70-bbe593ef5eca
Attribution (attribute)Inserm Orphanet
[AN]:bf6298da-973d-4892-8a70-bbe593ef5eca - [ SCTID=1187466009, type=1295448001, value 'Inserm Orphanet' ]
71
1187252002Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)(disorder)1187252002en
e4bba3d8-4761-482b-a2fa-5718902355ac
Attribution (attribute)Inserm Orphanet
[AN]:e4bba3d8-4761-482b-a2fa-5718902355ac - [ SCTID=1187252002, type=1295448001, value 'Inserm Orphanet' ]
72
1187563003Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)(disorder)1187563003en3f4b4ada-c423-48b4-beff-316feba9ce05Attribution (attribute)Inserm Orphanet
[AN]:3f4b4ada-c423-48b4-beff-316feba9ce05 - [ SCTID=1187563003, type=1295448001, value 'Inserm Orphanet' ]
73
1229940001Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)(disorder)1229940001en
57867ea6-0807-4412-aa2e-a0c9d909d109
Attribution (attribute)Inserm Orphanet
[AN]:57867ea6-0807-4412-aa2e-a0c9d909d109 - [ SCTID=1229940001, type=1295448001, value 'Inserm Orphanet' ]
74
1229941002Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder)(disorder)1229941002en
43a49875-242b-4adb-95e6-84bed490ffdd
Attribution (attribute)Inserm Orphanet
[AN]:43a49875-242b-4adb-95e6-84bed490ffdd - [ SCTID=1229941002, type=1295448001, value 'Inserm Orphanet' ]
75
1187619001Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)(disorder)1187619001en9e93bb71-b713-49cf-bc0d-7d67f847fb00Attribution (attribute)Inserm Orphanet
[AN]:9e93bb71-b713-49cf-bc0d-7d67f847fb00 - [ SCTID=1187619001, type=1295448001, value 'Inserm Orphanet' ]
76
1237625002Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)(disorder)1237625002en92aa8aae-1ee2-4361-aa8d-bd07767bfb8fAttribution (attribute)Inserm Orphanet
[AN]:92aa8aae-1ee2-4361-aa8d-bd07767bfb8f - [ SCTID=1237625002, type=1295448001, value 'Inserm Orphanet' ]
77
1186734006Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)(disorder)1186734006en
0bc474e2-5114-4436-8d6f-a7c5b421ab7c
Attribution (attribute)Inserm Orphanet
[AN]:0bc474e2-5114-4436-8d6f-a7c5b421ab7c - [ SCTID=1186734006, type=1295448001, value 'Inserm Orphanet' ]
78
1197358003Autosomal recessive dysgenesis of anterior segment of eye (disorder)(disorder)1197358003en
3cb4967f-381b-475b-aec5-9533799f748b
Attribution (attribute)Inserm Orphanet
[AN]:3cb4967f-381b-475b-aec5-9533799f748b - [ SCTID=1197358003, type=1295448001, value 'Inserm Orphanet' ]
79
1187567002Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder)(disorder)1187567002enf46a7c07-4c66-415e-9fbd-c25f93207344Attribution (attribute)Inserm Orphanet
[AN]:f46a7c07-4c66-415e-9fbd-c25f93207344 - [ SCTID=1187567002, type=1295448001, value 'Inserm Orphanet' ]
80
1197151003Autosomal recessive isolated optic atrophy (disorder)(disorder)1197151003en
d6f43bd0-edc2-433d-9571-3bac71a6aa86
Attribution (attribute)Inserm Orphanet
[AN]:d6f43bd0-edc2-433d-9571-3bac71a6aa86 - [ SCTID=1197151003, type=1295448001, value 'Inserm Orphanet' ]
81
1222704008Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)(disorder)1222704008en
7d8764c5-dd45-4da3-8437-4cec5299de62
Attribution (attribute)Inserm Orphanet
[AN]:7d8764c5-dd45-4da3-8437-4cec5299de62 - [ SCTID=1222704008, type=1295448001, value 'Inserm Orphanet' ]
82
1172892009Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder)(disorder)1172892009en
7fb8a1f1-7051-4266-95ab-42fb059e5c67
Attribution (attribute)Inserm Orphanet
[AN]:7fb8a1f1-7051-4266-95ab-42fb059e5c67 - [ SCTID=1172892009, type=1295448001, value 'Inserm Orphanet' ]
83
1197366007Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder)(disorder)1197366007en
8b7d62f5-e43e-444a-91c7-dd7a413ad37e
Attribution (attribute)Inserm Orphanet
[AN]:8b7d62f5-e43e-444a-91c7-dd7a413ad37e - [ SCTID=1197366007, type=1295448001, value 'Inserm Orphanet' ]
84
1187191003Autosomal recessive spastic paraplegia type 74 (disorder)(disorder)1187191003end8257cfb-8a4f-4c50-a26f-7ca86a851f1bAttribution (attribute)Inserm Orphanet
[AN]:d8257cfb-8a4f-4c50-a26f-7ca86a851f1b - [ SCTID=1187191003, type=1295448001, value 'Inserm Orphanet' ]
85
1187470001Autosomal recessive spastic paraplegia type 75 (disorder)(disorder)1187470001en
3d058bbe-33f4-449d-8d5a-6f9e1a887eb2
Attribution (attribute)Inserm Orphanet
[AN]:3d058bbe-33f4-449d-8d5a-6f9e1a887eb2 - [ SCTID=1187470001, type=1295448001, value 'Inserm Orphanet' ]
86
1172631001Autosomal recessive spastic paraplegia type 76 (disorder)(disorder)1172631001en
dda4848d-5c4e-4960-8637-ecd69f092905
Attribution (attribute)Inserm Orphanet
[AN]:dda4848d-5c4e-4960-8637-ecd69f092905 - [ SCTID=1172631001, type=1295448001, value 'Inserm Orphanet' ]
87
1187506008Autosomal recessive spastic paraplegia type 77 (disorder)(disorder)1187506008en
8980c200-e58a-4789-a2f6-0407c24044a9
Attribution (attribute)Inserm Orphanet
[AN]:8980c200-e58a-4789-a2f6-0407c24044a9 - [ SCTID=1187506008, type=1295448001, value 'Inserm Orphanet' ]
88
1177168007Autosomal recessive spastic paraplegia type 78 (disorder)(disorder)1177168007enc521f822-8e81-42aa-acf6-483bae03a5a2Attribution (attribute)Inserm Orphanet
[AN]:c521f822-8e81-42aa-acf6-483bae03a5a2 - [ SCTID=1177168007, type=1295448001, value 'Inserm Orphanet' ]
89
1187467000Autosomal recessive spastic paraplegia type 9B (disorder)(disorder)1187467000endf2bda62-6517-45f0-913f-324f358698a9Attribution (attribute)Inserm Orphanet
[AN]:df2bda62-6517-45f0-913f-324f358698a9 - [ SCTID=1187467000, type=1295448001, value 'Inserm Orphanet' ]
90
1204415006Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)(disorder)1204415006en
d836715b-4a19-47ef-81e6-5dfecde25d32
Attribution (attribute)Inserm Orphanet
[AN]:d836715b-4a19-47ef-81e6-5dfecde25d32 - [ SCTID=1204415006, type=1295448001, value 'Inserm Orphanet' ]
91
1197747005Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)(disorder)1197747005en
d15c8189-7de2-4385-b6a2-52d0b54b78f6
Attribution (attribute)Inserm Orphanet
[AN]:d15c8189-7de2-4385-b6a2-52d0b54b78f6 - [ SCTID=1197747005, type=1295448001, value 'Inserm Orphanet' ]
92
1231151009Avascular necrosis of bone of jaw (disorder)(disorder)1231151009en
1462d55a-485b-4441-a535-c90d1624d95e
Attribution (attribute)Inserm Orphanet
[AN]:1462d55a-485b-4441-a535-c90d1624d95e - [ SCTID=1231151009, type=1295448001, value 'Inserm Orphanet' ]
93
1179300002B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder)(disorder)1179300002en
7cfa3a82-619e-4510-bb24-3376985c75d1
Attribution (attribute)Inserm Orphanet
[AN]:7cfa3a82-619e-4510-bb24-3376985c75d1 - [ SCTID=1179300002, type=1295448001, value 'Inserm Orphanet' ]
94
1230295000B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)(disorder)1230295000en
252a6de4-87a7-4028-a645-2aa6074d4080
Attribution (attribute)Inserm Orphanet
[AN]:252a6de4-87a7-4028-a645-2aa6074d4080 - [ SCTID=1230295000, type=1295448001, value 'Inserm Orphanet' ]
95
1258972007Baraitser Winter cerebrofrontofacial syndrome (disorder)(disorder)1258972007en
75965895-7c90-4abc-aceb-2e4d8690cc56
Attribution (attribute)Inserm Orphanet
[AN]:75965895-7c90-4abc-aceb-2e4d8690cc56 - [ SCTID=1258972007, type=1295448001, value 'Inserm Orphanet' ]
96
1187644009Basel Vanagaite Smirin Yosef syndrome (disorder)(disorder)1187644009en
cbbb0545-c214-4b53-884d-b10766ddedae
Attribution (attribute)Inserm Orphanet
[AN]:cbbb0545-c214-4b53-884d-b10766ddedae - [ SCTID=1187644009, type=1295448001, value 'Inserm Orphanet' ]
97
1230023005Benign intraocular medulloepithelioma (disorder)(disorder)1230023005en00e6b7f6-c0c2-45fa-af2f-01b26790dbe7Attribution (attribute)Inserm Orphanet
[AN]:00e6b7f6-c0c2-45fa-af2f-01b26790dbe7 - [ SCTID=1230023005, type=1295448001, value 'Inserm Orphanet' ]
98
1260181000Benign metanephric tumor (disorder)(disorder)1260181000en
dcb6ecb0-1c62-477b-bd07-3a8eaa1f9e92
Attribution (attribute)Inserm Orphanet
[AN]:dcb6ecb0-1c62-477b-bd07-3a8eaa1f9e92 - [ SCTID=1260181000, type=1295448001, value 'Inserm Orphanet' ]
99
1251499005Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)(disorder)1251499005en7e29aedc-d7eb-426f-856f-56b124a666f2Attribution (attribute)Inserm Orphanet
[AN]:7e29aedc-d7eb-426f-856f-56b124a666f2 - [ SCTID=1251499005, type=1295448001, value 'Inserm Orphanet' ]
100
1197589000Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)(disorder)1197589000en
ae8c1b49-3b1b-4d3a-8715-c98bb3ba59a8
Attribution (attribute)Inserm Orphanet
[AN]:ae8c1b49-3b1b-4d3a-8715-c98bb3ba59a8 - [ SCTID=1197589000, type=1295448001, value 'Inserm Orphanet' ]