autosomal recessive limb-girdle muscular dystrophy type 2K

Summary

autosomal recessive limb-girdle muscular dystrophy type 2K is a rare disease^[1].

Key Facts

• autosomal recessive limb-girdle muscular dystrophy type 2K's instance of is recorded as rare disease^[2].
• autosomal recessive limb-girdle muscular dystrophy type 2K's instance of is recorded as class of disease^[3].
• autosomal recessive limb-girdle muscular dystrophy type 2K's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy^[4].
• autosomal recessive limb-girdle muscular dystrophy type 2K'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 2K's subclass of is recorded as qualitative or quantitative defects of protein O-mannosyltransferase 1^[6].
• autosomal recessive limb-girdle muscular dystrophy type 2K's subclass of is recorded as disorder of O-mannosylglycan synthesis^[7].
• autosomal recessive limb-girdle muscular dystrophy type 2K's OMIM ID is recorded as 609308^[8].
• autosomal recessive limb-girdle muscular dystrophy type 2K's Disease Ontology ID is recorded as DOID:0110297^[9].
• autosomal recessive limb-girdle muscular dystrophy type 2K's Orphanet ID is recorded as 86812^[10].
• autosomal recessive limb-girdle muscular dystrophy type 2K's NCI Thesaurus ID is recorded as C133730^[11].
• autosomal recessive limb-girdle muscular dystrophy type 2K's health specialty is recorded as neurology^[12].
• autosomal recessive limb-girdle muscular dystrophy type 2K's genetic association is recorded as POMT1^[13].
• autosomal recessive limb-girdle muscular dystrophy type 2K's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110297^[14].
• autosomal recessive limb-girdle muscular dystrophy type 2K's exact match is recorded as http://identifiers.org/doid/DOID:0110297^[15].
• autosomal recessive limb-girdle muscular dystrophy type 2K's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_86812^[16].
• autosomal recessive limb-girdle muscular dystrophy type 2K's UMLS CUI is recorded as C1836373^[17].
• autosomal recessive limb-girdle muscular dystrophy type 2K's ICD-10-CM is recorded as G71.0^[18].
• autosomal recessive limb-girdle muscular dystrophy type 2K's PatientsLikeMe condition ID is recorded as lgmd2k^[19].
• autosomal recessive limb-girdle muscular dystrophy type 2K's on focus list of Wikimedia project is recorded as WikiProject Medicine^[20].
• autosomal recessive limb-girdle muscular dystrophy type 2K's Mondo ID is recorded as MONDO_0012248^[21].
• autosomal recessive limb-girdle muscular dystrophy type 2K's Experimental Factor Ontology ID is recorded as 0009145^[22].