nemaline myopathy 11
nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has material basis in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21
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nemaline myopathy 11
Summary
nemaline myopathy 11 is a rare disease[1].
Key Facts
- nemaline myopathy 11's instance of is recorded as rare disease[2].
- nemaline myopathy 11's instance of is recorded as class of disease[3].
- nemaline myopathy 11's subclass of is recorded as nemaline myopathy[4].
- nemaline myopathy 11's subclass of is recorded as genetic disease[5].
- nemaline myopathy 11's subclass of is recorded as autosomal recessive disease[6].
- nemaline myopathy 11's OMIM ID is recorded as 617336[7].
- nemaline myopathy 11's Disease Ontology ID is recorded as DOID:0110933[8].
- nemaline myopathy 11's genetic association is recorded as MYPN[9].
- nemaline myopathy 11's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110933[10].
- nemaline myopathy 11's exact match is recorded as http://identifiers.org/doid/DOID:0110933[11].
- nemaline myopathy 11's UMLS CUI is recorded as CN240509[12].
- nemaline myopathy 11's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- nemaline myopathy 11's Mondo ID is recorded as MONDO_0015023[14].
- nemaline myopathy 11's UniProt disease ID is recorded as DI-04947[15].