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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.

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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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12/10/2024
MGI 6.24 		The Jackson Laboratory