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Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly

Disease ID: disease_node_15725

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DbxrefICD10CM:Q77.2, MIM:615633
SubclassofDOID_0050737, DOID_0050592
Data SourceDOID
SynonymsSRTD11
Doid Labelshort-rib thoracic dysplasia 11 with or without polydactyly
Doid DescriptionAn asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15725
Doid IdDOID_0110095
LabelShort-Rib Thoracic Dysplasia 11 With Or Without Polydactyly