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Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly

Disease ID: disease_node_15730

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Dbxref	ICD10CM:Q77.2, MIM:614091
Subclassof	DOID_0050737, DOID_0050592, DOID_0080578
Data Source	DOID
Synonyms	SRPS5, SRTD7, short rib-polydactyly syndrome type V
Doid Label	short-rib thoracic dysplasia 7 with or without polydactyly
Doid Description	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Has Material Basis In	GENO_0000148, GENO_0000930
Disease Node Id	disease_node_15730
Doid Id	DOID_0110090
Label	Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly

Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Digenic Disease(ID:disease_node_13627) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Asphyxiating Thoracic Dystrophy(ID:disease_node_15722) (Disease)

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