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Metadata
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
Xrefs

GARD:115

ICD10CM:Q87.0

MESH:C537227

MIM:101120

ORDO:3128

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]

Parent Relationships

is_a acrocephalosyndactylia

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