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Date: Tue Jan 28 2025
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Sakati-Nyhan syndrome
DOID:0060359
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
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.
[1]
Synonyms
ACPS with leg hypoplasia
acrocephalopolysyndactyly type 3
Show All 5
Cross References
GARD:115
ICD10CM:Q87.0
Show All 5
Parent Terms
acrocephalosyndactylia
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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