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Lethal Congenital Contracture Syndrome

Disease ID: disease_node_20327

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DbxrefGARD:12643, ICD10CM:Q68.8, MIM:PS253310, ORDO:294965
SubclassofDOID_0080015, DOID_225, DOID_0050737
Data SourceDOID
Disease Has LocationUBERON_0000982
Doid Labellethal congenital contracture syndrome
Doid DescriptionA syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20327
Doid IdDOID_0060558
Disease Has Basis InHP_0001197
LabelLethal Congenital Contracture Syndrome