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Geleophysic Dysplasia 1

Disease ID: disease_node_15707

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DbxrefMIM:231050
SubclassofDOID_0050737, DOID_0111724
Data SourceDOID
SynonymsGPHYSD1
Doid Labelgeleophysic dysplasia 1
Doid DescriptionA geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15707
Doid IdDOID_0111725
LabelGeleophysic Dysplasia 1