Sakati-Nyhan syndrome

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Summary

Literature (0)

DOID:0060359 - Sakati-Nyhan syndrome

Disease Ontology 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.

Synonyms: ACPS with leg hypoplasia, Sakati syndrome, Sakati-Nyhan-Tisdale syndrome, acrocephalopolysyndactyly Type III, acrocephalopolysyndactyly type 3,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): acrocephalosyndactylia (is_a)