Search Ontology:
Human Disease
Sakati-Nyhan syndrome
- Term ID
- DOID:0060359
- Synonyms
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- ACPS with leg hypoplasia
- acrocephalopolysyndactyly type 3
- acrocephalopolysyndactyly Type III
- Sakati syndrome
- Sakati-Nyhan-Tisdale 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
- References
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- GARD:115
- ICD10CM:Q87.0
- MESH:C537227
- MIM:101120
- ORDO:3128
- Ontology
- Human Disease ( DOID:0060359 )
- is a type of
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Genes Involved
Zebrafish Models