short-rib thoracic dysplasia 6 with or without polydactyly Disease Ontology Browser

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Disease Ontology Browser

short-rib thoracic dysplasia 6 with or without polydactyly (DOID:0110092)
Alliance: disease page
Synonyms: Majewski syndrome; polydactyly with neonatal chondrodystrophy, type II; short rib-polydactyly syndrome type IIA; SRPS2A; SRTD6
Alt IDs: OMIM:263520, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.

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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