short-rib thoracic dysplasia 10 with or without polydactyly Disease Ontology Browser

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Disease Ontology Browser

short-rib thoracic dysplasia 10 with or without polydactyly (DOID:0110091)
Alliance: disease page
Synonyms: SRTD10
Alt IDs: OMIM:615630, ICD10CM:Q77.2, ICD10CM:Q87.5
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

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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