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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 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: OMIM:615547
 xref: GARD:13316;   ORDO:398069
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Schaaf-Yang syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558012
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:7240710
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872

Term paths to the root
Path 1
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  disease 15992
    syndrome 6097
      Prader-Willi syndrome 17
        Schaaf-Yang syndrome 3
Path 2
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    Prader-Willi syndrome 17
                      Schaaf-Yang syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.