OBO ID: DOID:0110289 |
Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2Y | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. https://www.ncbi.nlm.nih.gov/pubmed/24856141 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0110289 ) |
OTHER autosomal recessive limb-girdle muscular dystrophy type 2Y PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
TOR1AIP1 | ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.