OBO ID: DOID:0080732
Term Name: Ehlers-Danlos syndrome classic-like 2 Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   (DOID:0080732)
OTHER Ehlers-Danlos syndrome classic-like 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AEBP1 Ehlers-Danlos syndrome, classic-like, 2 618000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None