Search Ontology:
Human Disease
autosomal recessive limb-girdle muscular dystrophy type 2L
- Term ID
- DOID:0110284
- Synonyms
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- LGMD2L
- muscular dystrophy, limb-girdle, type 2L
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. https://www.ncbi.nlm.nih.gov/pubmed/20096397
- References
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- ICD10CM:G71.0
- MIM:611307
- ORDO:206549
- Ontology
- Human Disease ( DOID:0110284 )
- is a type of
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Genes Involved
Zebrafish Models