autosomal recessive limb-girdle muscular dystrophy type 2O
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34
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autosomal recessive limb-girdle muscular dystrophy type 2O
Summary
autosomal recessive limb-girdle muscular dystrophy type 2O is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2O's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2O's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2O's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2O's subclass of is recorded as congenital disorder of glycosylation with neurological involvement[5].
- autosomal recessive limb-girdle muscular dystrophy type 2O's subclass of is recorded as qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase[6].
- autosomal recessive limb-girdle muscular dystrophy type 2O's subclass of is recorded as disorder of O-mannosylglycan synthesis[7].
- autosomal recessive limb-girdle muscular dystrophy type 2O's OMIM ID is recorded as 613157[8].
- autosomal recessive limb-girdle muscular dystrophy type 2O's Disease Ontology ID is recorded as DOID:0110292[9].
- autosomal recessive limb-girdle muscular dystrophy type 2O's Orphanet ID is recorded as 206564[10].
- autosomal recessive limb-girdle muscular dystrophy type 2O's health specialty is recorded as neurology[11].
- autosomal recessive limb-girdle muscular dystrophy type 2O's genetic association is recorded as POMGNT1[12].
- autosomal recessive limb-girdle muscular dystrophy type 2O's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110292[13].
- autosomal recessive limb-girdle muscular dystrophy type 2O's exact match is recorded as http://identifiers.org/doid/DOID:0110292[14].
- autosomal recessive limb-girdle muscular dystrophy type 2O's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_206564[15].
- autosomal recessive limb-girdle muscular dystrophy type 2O's UMLS CUI is recorded as C3150417[16].
- autosomal recessive limb-girdle muscular dystrophy type 2O's ICD-10-CM is recorded as G71.0[17].
- autosomal recessive limb-girdle muscular dystrophy type 2O's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- autosomal recessive limb-girdle muscular dystrophy type 2O's Mondo ID is recorded as MONDO_0013161[19].