autosomal recessive limb-girdle muscular dystrophy type 2N
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3
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autosomal recessive limb-girdle muscular dystrophy type 2N
Summary
autosomal recessive limb-girdle muscular dystrophy type 2N is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2N's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2N's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2N's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2N's subclass of is recorded as non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature[5].
- autosomal recessive limb-girdle muscular dystrophy type 2N's subclass of is recorded as qualitative or quantitative defects of protein O-mannosyltransferase 2[6].
- autosomal recessive limb-girdle muscular dystrophy type 2N's subclass of is recorded as disorder of O-mannosylglycan synthesis[7].
- autosomal recessive limb-girdle muscular dystrophy type 2N's OMIM ID is recorded as 613158[8].
- autosomal recessive limb-girdle muscular dystrophy type 2N's Disease Ontology ID is recorded as DOID:0110298[9].
- autosomal recessive limb-girdle muscular dystrophy type 2N's Orphanet ID is recorded as 206559[10].
- autosomal recessive limb-girdle muscular dystrophy type 2N's health specialty is recorded as neurology[11].
- autosomal recessive limb-girdle muscular dystrophy type 2N's genetic association is recorded as POMT2[12].
- autosomal recessive limb-girdle muscular dystrophy type 2N's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110298[13].
- autosomal recessive limb-girdle muscular dystrophy type 2N's exact match is recorded as http://identifiers.org/doid/DOID:0110298[14].
- autosomal recessive limb-girdle muscular dystrophy type 2N's UMLS CUI is recorded as C3150418[15].
- autosomal recessive limb-girdle muscular dystrophy type 2N's ICD-10-CM is recorded as G71.0[16].
- autosomal recessive limb-girdle muscular dystrophy type 2N's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- autosomal recessive limb-girdle muscular dystrophy type 2N's Mondo ID is recorded as MONDO_0013162[18].