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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by OMIM:615547
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by term: Schaaf-Yang syndrome
OMIM
ClinVar
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:28281571 PMID:29581464 PMID:29599419 PMID:31397880 PMID:31680349 PMID:32860008 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Prader-Willi syndrome 17
        Schaaf-Yang syndrome 3
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    Prader-Willi syndrome 17
                      Schaaf-Yang syndrome 3
paths to the root