Diseases

Name Orphanumber Description XREF(s)
Postsynaptic congenital myasthenic syndromes 98913 Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Late-onset distal myopathy, Markesbery-Griggs type 98912 A rare, genetic, non-dystrophic… Orphanet, ICD-10, OMIM
Distal myotilinopathy 98911 A rare, late adult-onset myofibrillar… Orphanet, ICD-10, OMIM
Desminopathy 98909 A rare genetic skeletal muscle disease… Orphanet, ICD-10, OMIM
Neutral lipid storage myopathy 98908 A form of neutral lipid storage disease… Orphanet, ICD-10, OMIM
Neutral lipid storage disease with ichthyosis 98907 A form of neutral lipid storage disease… Orphanet, ICD-10, OMIM
Congenital multicore myopathy with external ophthalmoplegia 98905 Orphanet, ICD-10, OMIM
Congenital myopathy with excess of thin filaments 98904 A rare, genetic, congenital myopathy… Orphanet, OMIM, ICD-10
Amish nemaline myopathy 98902 A type of nemaline myopathy (NM) only… Orphanet, OMIM, ICD-10
Oculopharyngodistal myopathy 98897 A rare, genetic neuromuscular disease… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM
Duchenne muscular dystrophy 98896 A rare, genetic, muscular dystrophy… Orphanet, OMIM, MeSH, MedDRA, ICD-10
Becker muscular dystrophy 98895 A rare, genetic muscular dystrophy… Orphanet, MedDRA, ICD-10, OMIM, OMIM
Periventricular nodular heterotopia 98892 Periventricular nodular heterotopia (… Orphanet, OMIM, OMIM, OMIM, MeSH, OMIM, OMIM, OMIM, OMIM, OMIM, MedDRA, ICD-10
Early-onset X-linked optic atrophy 98890 Early-onset X-linked optic atrophy is a… Orphanet, ICD-10, OMIM
Bilateral perisylvian polymicrogyria 98889 Orphanet, ICD-10, OMIM, OMIM, OMIM
Bleeding diathesis due to glycoprotein VI deficiency 98885 Orphanet, OMIM, ICD-10
Familial dysfibrinogenemia 98881 Familial dysfibrinogenemia is a… Orphanet, OMIM, ICD-10
Familial afibrinogenemia 98880 Familial afibrinogenemia is a… Orphanet, OMIM, ICD-10
Hemophilia B 98879 Hemophilia B is a form of hemophilia (… Orphanet
Hemophilia A 98878 Hemophilia A is the most common form of… Orphanet
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