OBO ID: DOID:0080730 |
Term Name: | Ehlers-Danlos syndrome cardiac valvular type | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/16816023/ | ||
References: | |||
Ontology: | Human Disease ( DOID:0080730 ) |
OTHER Ehlers-Danlos syndrome cardiac valvular type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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.