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Human Disease
autosomal recessive limb-girdle muscular dystrophy type 2P
- Term ID
- DOID:0110293
- Synonyms
-
- LGMD2P
- MDDGC9
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/21388311
- References
-
- ICD10CM:G71.0
- MIM:613818
- ORDO:280333
- Ontology
- Human Disease ( DOID:0110293 )
- is a type of
-
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
DAG1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | autosomal recessive limb-girdle muscular dystrophy type 2P | 613818 |
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Zebrafish Models