short-rib thoracic dysplasia 8 with or without polydactyly Disease Ontology Browser

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Disease Ontology Browser

short-rib thoracic dysplasia 8 with or without polydactyly (DOID:0110094)
Alliance: disease page
Synonyms: short rib-polydactyly syndrome type VI; SRPS6; SRTD8
Alt IDs: OMIM:615503, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

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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