congenital muscular dystrophy-dystroglycanopathy type A2
congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT2 on 14q24.3
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congenital muscular dystrophy-dystroglycanopathy type A2
Summary
congenital muscular dystrophy-dystroglycanopathy type A2 is a rare disease[1].
Key Facts
- congenital muscular dystrophy-dystroglycanopathy type A2's instance of is recorded as rare disease[2].
- congenital muscular dystrophy-dystroglycanopathy type A2's instance of is recorded as class of disease[3].
- congenital muscular dystrophy-dystroglycanopathy type A2's subclass of is recorded as congenital muscular dystrophy-dystroglycanopathy type A[4].
- congenital muscular dystrophy-dystroglycanopathy type A2's OMIM ID is recorded as 613150[5].
- congenital muscular dystrophy-dystroglycanopathy type A2's Disease Ontology ID is recorded as DOID:0111240[6].
- congenital muscular dystrophy-dystroglycanopathy type A2's NCI Thesaurus ID is recorded as C126742[7].
- congenital muscular dystrophy-dystroglycanopathy type A2's genetic association is recorded as POMT2[8].
- congenital muscular dystrophy-dystroglycanopathy type A2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111240[9].
- congenital muscular dystrophy-dystroglycanopathy type A2's exact match is recorded as http://identifiers.org/doid/DOID:0111240[10].
- congenital muscular dystrophy-dystroglycanopathy type A2's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
- congenital muscular dystrophy-dystroglycanopathy type A2's Mondo ID is recorded as MONDO_0013154[12].
- congenital muscular dystrophy-dystroglycanopathy type A2's UniProt disease ID is recorded as DI-02954[13].