Diseases

Name Orphanumber Description XREF(s)
Becker muscular dystrophy 98895 A rare, genetic muscular dystrophy… Orphanet, MedDRA, ICD-10, OMIM, OMIM
Duchenne muscular dystrophy 98896 A rare, genetic, muscular dystrophy… Orphanet, OMIM, MeSH, MedDRA, ICD-10
Oculopharyngodistal myopathy 98897 A rare, genetic neuromuscular disease… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM
Amish nemaline myopathy 98902 A type of nemaline myopathy (NM) only… Orphanet, OMIM, ICD-10
Congenital myopathy with excess of thin filaments 98904 A rare, genetic, congenital myopathy… Orphanet, OMIM, ICD-10
Congenital multicore myopathy with external ophthalmoplegia 98905 Orphanet, ICD-10, OMIM
Neutral lipid storage disease with ichthyosis 98907 A form of neutral lipid storage disease… Orphanet, ICD-10, OMIM
Neutral lipid storage myopathy 98908 A form of neutral lipid storage disease… Orphanet, ICD-10, OMIM
Desminopathy 98909 A rare genetic skeletal muscle disease… Orphanet, ICD-10, OMIM
Distal myotilinopathy 98911 A rare, late adult-onset myofibrillar… Orphanet, ICD-10, OMIM
Late-onset distal myopathy, Markesbery-Griggs type 98912 A rare, genetic, non-dystrophic… Orphanet, ICD-10, OMIM
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
Presynaptic congenital myasthenic syndromes 98914 Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Synaptic congenital myasthenic syndromes 98915 Orphanet, ICD-10, OMIM
Acute inflammatory demyelinating polyradiculoneuropathy 98916 A rare inflammatory neuropathy… Orphanet, ICD-10, OMIM
Spinal muscular atrophy with respiratory distress type 1 98920 Spinal muscular atrophy with… Orphanet, OMIM, ICD-10
Multiple system atrophy, parkinsonian type 98933 Multiple system atrophy, parkinsonian… Orphanet, ICD-10
Huntington disease-like 2 98934 A rare severe neurodegenerative… Orphanet, OMIM, ICD-10
Colobomatous microphthalmia 98938 Colobomatous microphthalmia is a… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Coloboma of choroid and retina 98942 Coloboma of choroid and retina is a… Orphanet, ICD-10, OMIM
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