OBO ID: DOID:14720
Term Name: Ehlers-Danlos syndrome classic type 1 Search Ontology:
Synonyms:
  • Ehlers-Danlos syndrome, type 1
  • type I Ehlers-Danlos syndrome
Definition: An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:
Ontology: Human Disease   (DOID:14720)
OTHER Ehlers-Danlos syndrome classic type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL5A1 Ehlers-Danlos syndrome, classic type, 1 130000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None