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

Wikidata entity: Q1531337

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18041912 (POMGNT1) POMGNT1
P1995 health specialty ... Q83042 (neurology) neurology
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q27429766 (autosomal recessive limb-girdle muscular dystrophy) autosomal recessive limb-girdle muscular dystrophy
P279 subclass of ... Q55786000 (qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase) qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
P279 subclass of ... Q55787322 (disorder of O-mannosylglycan synthesis) disorder of O-mannosylglycan synthesis
P279 subclass of ... Q55787867 (congenital disorder of glycosylation with neurological involvement) congenital disorder of glycosylation with neurological involvement
External Ids
P699Disease Ontology IDDOID:0110292
P4229ICD-10-CMG71.0
P5270Mondo IDMONDO_0013161
P492OMIM ID613157
P492OMIM ID613157
P1550Orphanet ID206564
P2892UMLS CUIC3150417

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