Search Ontology:
Human Disease

Schaaf-Yang syndrome

Term ID
DOID:0111715
Synonyms
  • MAGEL2-related Prader-Willi-like syndrome
  • MAGEL2-related PWLS
  • PWLS
  • SHFYNG
Definition
A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. https://www.ncbi.nlm.nih.gov/pubmed/27195816
References
  • GARD:13316
  • MIM:615547
  • ORDO:398069
  • SNOMEDCT_US_2023_03_01:770680004
  • UMLS_CUI:C3809877
Ontology
Human Disease   ( DOID:0111715 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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