autosomal recessive type IV Ehlers-Danlos syndrome

Term ID

DOID:14759

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_2023_03_01:70610001
• UMLS_CUI:C0268340

Ontology

Human Disease   ( DOID:14759 )