OBO ID: DOID:14759
Term Name: autosomal recessive type IV Ehlers-Danlos syndrome Search Ontology:
Synonyms:
  • Ehlers-Danlos syndrome, recessive type 4
Definition: An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:
  • SNOMEDCT_US_2022_03_01:70610001
  • UMLS_CUI:C0268340
Ontology: Human Disease   (DOID:14759)
OTHER autosomal recessive type IV Ehlers-Danlos syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None