OBO ID: DOID:0111715
Term Name: Schaaf-Yang syndrome Search Ontology:
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
  • OMIM:615547
  • ORDO:398069
  • SNOMEDCT_US_2023_03_01:770680004
  • UMLS_CUI:C3809877
Ontology: Human Disease   ( DOID:0111715 )
Relationships
is a type of:
OTHER Schaaf-Yang syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAGEL2 Schaaf-Yang syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None