Diseases

Name Orphanumber Description XREF(s)
Branchio-oculo-facial syndrome 1297 A rare, dominantly inherited multiple… Orphanet, ICD-10, OMIM
Branchioskeletogenital syndrome 1299 Branchioskeletogenital syndrome is a… Orphanet, ICD-10, OMIM
6-pyruvoyl-tetrahydropterin synthase deficiency 13 6-pyruvoyl-tetrahydropterin synthase (… Orphanet, ICD-10, OMIM, MeSH
Brugada syndrome 130 A cardiac disorder characterized on… Orphanet, MedDRA, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, MeSH, ICD-10
Autosomal dominant popliteal pterygium syndrome 1300 A rare genetic, multiple congenital… Orphanet, ICD-10, OMIM
Buschke-Ollendorff syndrome 1306 Buschke-Ollendorff syndrome (BOS) is a… Orphanet, ICD-10, OMIM, MeSH
C syndrome 1308 C syndrome is a rare multiple… Orphanet, OMIM, ICD-10
Medullary sponge kidney 1309 A rare renal tract malformation… Orphanet, MeSH, MedDRA, ICD-10
Budd-Chiari syndrome 131 A rare vascular liver disease… Orphanet, MeSH, MedDRA, OMIM, ICD-10
Caffey disease 1310 Caffey disease is an osteosclerotic… Orphanet, OMIM, ICD-10
Butyrylcholinesterase deficiency 132 Butyrylcholinesterase (BChE) deficiency… Orphanet, OMIM, MeSH, ICD-10
Camurati-Engelmann disease 1328 Camurati-Englemann disease (CED) is a… Orphanet, MeSH, OMIM, ICD-10
Chronic beryllium disease 133 A pneumoconiosis, characterized by… Orphanet, MeSH, MedDRA, ICD-10
Partial atrioventricular septal defect 1330 A rare congenital cardiac malformation… Orphanet, ICD-10, MeSH
Familial prostate cancer 1331 Familial prostate cancer (FPC) is a… Orphanet, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Familial pancreatic carcinoma 1333 Familial pancreatic carcinoma is… Orphanet, OMIM, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM
Chronic mucocutaneous candidiasis 1334 A rare primary immunodeficiency… Orphanet, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, MeSH, OMIM, OMIM
Heart defect-tongue hamartoma-polysyndactyly syndrome 1338 A rare, genetic, multiple congenital… Orphanet, ICD-10, OMIM, MeSH
Beta-ketothiolase deficiency 134 A rare, genetic organic aciduria… Orphanet, OMIM, ICD-10
Cardiofaciocutaneous syndrome 1340 A rare, multiple congenital anomalies… Orphanet, ICD-10, MeSH, OMIM, OMIM, OMIM, OMIM
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