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DO Term : Schaaf-Yang syndrome [DOID:0111715] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 615547,
  • GARD:13316,
  • ORDO:398069,
  • PWLS,
  • UMLS_CUI:C3809877,
  • MAGEL2-related PWLS,
  • SHFYNG,
  • OMIM:615547,
  • MAGEL2-related Prader-Willi-like syndrome,
  • SNOMEDCT_US_2023_03_01:770680004
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents