Term Name: | autosomal recessive type IV Ehlers-Danlos syndrome |
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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. |
Ontology: | Human Disease [DOID:14759] ( DOID:14759 ) |