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Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

Disease ID: disease_node_18756

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DbxrefSNOMEDCT_US_2023_03_01:70610001, UMLS_CUI:C0268340
SubclassofDOID_0050737, DOID_13359
Data SourceDOID
SynonymsEhlers-Danlos syndrome, recessive type 4
Doid Labelautosomal recessive type IV Ehlers-Danlos syndrome
Doid DescriptionAn 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_18756
Doid IdDOID_14759
LabelAutosomal Recessive Type Iv Ehlers-Danlos Syndrome