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Asphyxiating Thoracic Dystrophy 4

Disease ID: disease_node_15732

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DbxrefICD10CM:Q77.2, MIM:613819
SubclassofDOID_0050737, DOID_0050592
Data SourceDOID
SynonymsATD4, SRTD4, short-rib thoracic dysplasia 4 with or without polydactyly
Doid Labelasphyxiating thoracic dystrophy 4
Doid DescriptionAn asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_15732
Doid IdDOID_0110088
LabelAsphyxiating Thoracic Dystrophy 4