Metadata | |
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ID | DOID:0060359 |
Name | Sakati-Nyhan syndrome |
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. https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome |
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Subsets |
DO_rare_slim |
Synonyms |
ACPS with leg hypoplasia [EXACT] acrocephalopolysyndactyly type 3 [EXACT] acrocephalopolysyndactyly Type III [EXACT] Sakati syndrome [EXACT] Sakati-Nyhan-Tisdale syndrome [EXACT] |
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