short-rib thoracic dysplasia 13 with or without polydactyly Disease Ontology Browser

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Disease Ontology Browser

short-rib thoracic dysplasia 13 with or without polydactyly (DOID:0110093)
Alliance: disease page
Synonyms: SRTD13
Alt IDs: OMIM:616300, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.

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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