Diseases

Name Orphanumber Description XREF(s)
Autosomal dominant optic atrophy plus syndrome 1215 A rare neuro-ophthalmological disease… Orphanet, ICD-10, OMIM, OMIM, MeSH, OMIM
Autosomal dominant congenital benign spinal muscular atrophy 1216 A rare distal hereditary motor… Orphanet, ICD-10, OMIM
Birt-Hogg-Dubé syndrome 122 A rare inherited cancer-predisposing… Orphanet, ICD-10, MeSH, OMIM, MedDRA
Test 1222 Farrrr far away, behind the word…
Baller-Gerold syndrome 1225 Baller-Gerold syndrome is characterized… Orphanet, MeSH, ICD-10, OMIM
Bamforth-Lazarus syndrome 1226 A very rare syndrome of congenital… Orphanet, MeSH, OMIM, ICD-10
Congenital intrauterine infection-like syndrome 1229 Congenital intrauterine infection-like… Orphanet, ICD-10, OMIM
Björnstad syndrome 123 Björnstad syndrome is characterized by… Orphanet, ICD-10, OMIM, MeSH
Barber-Say syndrome 1231 Barber Say syndrome (BSS) is a rare… Orphanet, OMIM, MeSH, ICD-10
NON RARE IN EUROPE: Barrett esophagus 1232 Orphanet
Bartsocas-Papas syndrome 1234 Bartsocas-Papas syndrome is a rare,… Orphanet, OMIM, ICD-10, OMIM
Diamond-Blackfan anemia 124 Blackfan-Diamond anemia (DBA) is a… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10, MeSH, MedDRA, OMIM, OMIM, OMIM, OMIM, OMIM
Best vitelliform macular dystrophy 1243 Best vitelliform macular dystrophy (… Orphanet, ICD-10, OMIM
Bloom syndrome 125 Bloom syndrome is a rare disorder… Orphanet, MeSH, OMIM, ICD-10
Boomerang dysplasia 1263 Boomerang dysplasia (BD) is a rare… Orphanet, MeSH, OMIM, ICD-10
Borjeson-Forssman-Lehmann syndrome 127 Borjeson-Forssman-Lehmann syndrome (… Orphanet, ICD-10, OMIM, MeSH
Bowen-Conradi syndrome 1270 A rare developmental defect during… Orphanet, OMIM, MeSH, ICD-10
Aymé-Gripp syndrome 1272 A rare genetic multiple congenital… Orphanet, OMIM, ICD-10, MeSH, OMIM
Brachydactyly-elbow wrist dysplasia syndrome 1275 Brachydactyly-elbow wrist dysplasia… Orphanet, OMIM, ICD-10
Brachydactyly-arterial hypertension syndrome 1276 A rare genetic brachydactyly syndrome… Orphanet, OMIM, ICD-10
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