OBO ID: DOID:0111594 |
Term Name: | distal arthrogryposis type 5D | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. https://www.ncbi.nlm.nih.gov/pubmed/23261301 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111594 ) |
OTHER distal arthrogryposis type 5D PAGES
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.