autosomal recessive limb-girdle muscular dystrophy type 2I
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3
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autosomal recessive limb-girdle muscular dystrophy type 2I
Summary
autosomal recessive limb-girdle muscular dystrophy type 2I is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2I's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2I's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as qualitative or quantitative defects of FKRP[5].
- autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as disorder of O-mannosylglycan synthesis[6].
- autosomal recessive limb-girdle muscular dystrophy type 2I's subclass of is recorded as congenital disorder of glycosylation with neurological involvement[7].
- autosomal recessive limb-girdle muscular dystrophy type 2I's MeSH descriptor ID is recorded as C564612[8].
- autosomal recessive limb-girdle muscular dystrophy type 2I's OMIM ID is recorded as 607155[9].
- autosomal recessive limb-girdle muscular dystrophy type 2I's Disease Ontology ID is recorded as DOID:0110299[10].
- autosomal recessive limb-girdle muscular dystrophy type 2I's Orphanet ID is recorded as 34515[11].
- autosomal recessive limb-girdle muscular dystrophy type 2I's NCI Thesaurus ID is recorded as C126739[12].
- autosomal recessive limb-girdle muscular dystrophy type 2I's health specialty is recorded as neurology[13].
- autosomal recessive limb-girdle muscular dystrophy type 2I's genetic association is recorded as FKRP[14].
- autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110299[15].
- autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://identifiers.org/doid/DOID:0110299[16].
- autosomal recessive limb-girdle muscular dystrophy type 2I's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_34515[17].
- autosomal recessive limb-girdle muscular dystrophy type 2I's UMLS CUI is recorded as C1846672[18].
- autosomal recessive limb-girdle muscular dystrophy type 2I's ICD-10-CM is recorded as G71.0[19].
- autosomal recessive limb-girdle muscular dystrophy type 2I's GARD rare disease ID is recorded as 12533[20].
- autosomal recessive limb-girdle muscular dystrophy type 2I's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- autosomal recessive limb-girdle muscular dystrophy type 2I's Mondo ID is recorded as MONDO_0011787[22].