nemaline myopathy 2
nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23
Press Enter · cited answer in seconds
0 sources
nemaline myopathy 2
Summary
nemaline myopathy 2 is a class of disease[1].
Key Facts
- nemaline myopathy 2's instance of is recorded as class of disease[2].
- nemaline myopathy 2's subclass of is recorded as nemaline myopathy[3].
- nemaline myopathy 2's subclass of is recorded as genetic disease[4].
- nemaline myopathy 2's subclass of is recorded as autosomal recessive disease[5].
- nemaline myopathy 2's MeSH descriptor ID is recorded as C538349[6].
- nemaline myopathy 2's OMIM ID is recorded as 256030[7].
- nemaline myopathy 2's Disease Ontology ID is recorded as DOID:0110928[8].
- nemaline myopathy 2's NCI Thesaurus ID is recorded as C118784[9].
- nemaline myopathy 2's genetic association is recorded as NEB[10].
- nemaline myopathy 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110928[11].
- nemaline myopathy 2's exact match is recorded as http://identifiers.org/doid/DOID:0110928[12].
- nemaline myopathy 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_607[13].
- nemaline myopathy 2's UMLS CUI is recorded as C1850569[14].
- nemaline myopathy 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- nemaline myopathy 2's Mondo ID is recorded as MONDO_0009725[16].
- nemaline myopathy 2's UniProt disease ID is recorded as DI-02033[17].