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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,
Xenbase Genes
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| MONDO:0007040 - Sakati-Nyhan syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
acrocephalosyndactylia (is_a)