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Disease Ontology Browser
Sakati-Nyhan syndrome (DOID:0060359)
Alliance: disease page
Synonyms: ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; acrocephalopolysyndactyly Type III; Sakati syndrome; Sakati-Nyhan-Tisdale syndrome
Alt IDs: OMIM:101120, ICD10CM:Q87.0, MESH:C537227, ORDO:3128
Definition: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

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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MGI 6.14
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