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Metadata
ID DOID:14759
Name autosomal recessive type IV Ehlers-Danlos syndrome
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/
Xrefs

SNOMEDCT_US_2020_03_01:70610001

UMLS_CUI:C0268340

Synonyms

Ehlers-Danlos syndrome, recessive type 4 [EXACT]

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal recessive disease

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