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Short-Rib Thoracic Dysplasia 18 With Polydactyly

Disease ID: disease_node_15736

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Dbxref	MIM:617866
Subclassof	DOID_0050737, DOID_0050592
Data Source	DOID
Doid Label	short-rib thoracic dysplasia 18 with polydactyly
Doid Description	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_15736
Doid Id	DOID_0080293
Label	Short-Rib Thoracic Dysplasia 18 With Polydactyly

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

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