autosomal recessive limb-girdle muscular dystrophy type 2J
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the titin gene (TTN)
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autosomal recessive limb-girdle muscular dystrophy type 2J
Summary
autosomal recessive limb-girdle muscular dystrophy type 2J is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2J's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2J's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2J's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2J's subclass of is recorded as qualitative or quantitative defects of titin[5].
- autosomal recessive limb-girdle muscular dystrophy type 2J's MeSH descriptor ID is recorded as C563854[6].
- autosomal recessive limb-girdle muscular dystrophy type 2J's OMIM ID is recorded as 608807[7].
- autosomal recessive limb-girdle muscular dystrophy type 2J's Disease Ontology ID is recorded as DOID:0110283[8].
- autosomal recessive limb-girdle muscular dystrophy type 2J's Orphanet ID is recorded as 140922[9].
- autosomal recessive limb-girdle muscular dystrophy type 2J's health specialty is recorded as neurology[10].
- autosomal recessive limb-girdle muscular dystrophy type 2J's genetic association is recorded as TTN[11].
- autosomal recessive limb-girdle muscular dystrophy type 2J's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110283[12].
- autosomal recessive limb-girdle muscular dystrophy type 2J's exact match is recorded as http://identifiers.org/doid/DOID:0110283[13].
- autosomal recessive limb-girdle muscular dystrophy type 2J's UMLS CUI is recorded as C1837342[14].
- autosomal recessive limb-girdle muscular dystrophy type 2J's ICD-10-CM is recorded as G71.0[15].
- autosomal recessive limb-girdle muscular dystrophy type 2J's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- autosomal recessive limb-girdle muscular dystrophy type 2J's Mondo ID is recorded as MONDO_0012127[17].