short-rib thoracic dysplasia 18 with polydactyly Disease Ontology Browser

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Disease Ontology Browser

short-rib thoracic dysplasia 18 with polydactyly (DOID:0080293)
Alliance: disease page
Alt IDs: OMIM:617866
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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