Diseases

Name Orphanumber Description XREF(s)
Acromicric dysplasia 969 A rare bone dysplasia characterized by… Orphanet, OMIM, ICD-10, MeSH
Familial paroxysmal ataxia 97 A form of hereditary episodic ataxia (… Orphanet, ICD-10, OMIM
Hereditary sensory and autonomic neuropathy type 2 970 A rare hereditary sensory and autonomic… Orphanet, OMIM, OMIM, OMIM, OMIM, ICD-10
Hereditary continuous muscle fiber activity 972 Hereditary continuous muscle fiber… Orphanet, OMIM, ICD-10
Riboflavin transporter deficiency 97229 Riboflavin transporter deficiency (RTD… Orphanet, OMIM, ICD-10, OMIM, OMIM, MeSH
Ligneous conjunctivitis 97231 Ligneous conjunctivitis (LC) is a rare… Orphanet, MedDRA, ICD-10, OMIM
Glycogen storage disease due to phosphoglycerate mutase deficiency 97234 A rare metabolic myopathy characterized… Orphanet, OMIM, ICD-10
Rippling muscle disease 97238 Rippling muscle disease is a rare,… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM
Reducing body myopathy 97239 Reducing body myopathy (RBM) is a rare… Orphanet, ICD-10, OMIM, OMIM
Zebra body myopathy 97240 Zebra body myopathy is a benign… Orphanet, ICD-10
Rigid spine syndrome 97244 Rigid spine syndrome (RSS) is a slowly… Orphanet, MeSH, ICD-10, OMIM
Pontocerebellar hypoplasia type 3 97249 A rare, genetic form of pontocerebellar… Orphanet, MeSH, ICD-10, OMIM
Insulinoma 97279 A form of functioning pancreatic… Orphanet, MeSH, MedDRA, ICD-10, ICD-10, ICD-10
Carney-Stratakis syndrome 97286 Carney-Stratakis syndrome is a recently… Orphanet, ICD-10, OMIM
Bohring-Opitz syndrome 97297 A rare multiple congenital anomalies… Orphanet, OMIM, ICD-10
Melanoma of soft tissue 97338 A rare soft tissue tumor characterized… Orphanet, ICD-10, ICD-10
ABri amyloidosis 97345 A rare, neurodegenerative disease… Orphanet, MeSH, ICD-10, OMIM, ICD-10
ADan amyloidosis 97346 A rare, neurodegenerative disease… Orphanet, MeSH, OMIM, ICD-10, ICD-10
Renal hypoplasia, bilateral 97362 A form of renal hypoplasia… Orphanet, ICD-10
Unilateral multicystic dysplastic kidney 97363 A rare form of multicystic dysplastic… Orphanet, MeSH, ICD-10
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