|OBO ID: DOID:0080732|
|Term Name:||Ehlers-Danlos syndrome classic-like 2||Search Ontology:|
|Definition:||An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. https://pubmed.ncbi.nlm.nih.gov/28306229/|
|Ontology:||Human Disease ( DOID:0080732 )|
|is a type of:||
OTHER Ehlers-Danlos syndrome classic-like 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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.