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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Schaaf-Yang syndrome
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Accession:DOID:0111715 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Chitayat-Hall syndrome;   MAGEL2-RELATED CONDITION;   MAGEL2-related PWLS;   MAGEL2-related Prader-Willi-like syndrome;   PWLS;   Prader-Willi-like syndrome;   SHFYNG;   distal arthrogryposis with hypopituitarism, mental retardation, and facial anomalies
 primary_id: MESH:C535385
 alt_id: MIM:615547
 xref: GARD:13316;   ORDO:398069


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Schaaf-Yang syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 IEP associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome		 ClinVar
OMIM		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      Prader-Willi syndrome 30
        Schaaf-Yang syndrome 3
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            disease of mental health 29592
              developmental disorder of mental health 14911
                specific developmental disorder 9759
                  intellectual disability 7287
                    Prader-Willi syndrome 30
                      Schaaf-Yang syndrome 3
paths to the root