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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:Say Meyer Syndrome
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Accession:DOID:9006231 term browser browse the term
Synonyms:exact_synonym: Trigonocephaly with Short Stature and Developmental Delay;   Trigonocephaly, short stature and developmental delay;   Trigonocephaly, short stature, and retarded psychomotor development
 primary_id: MESH:C536620
 alt_id: MIM:314320


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Say Meyer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development ClinVar PMID:25741868 PMID:30797980 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Say Meyer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        Congenital Abnormalities 7759
          Musculoskeletal Abnormalities 3414
            Craniofacial Abnormalities 2744
              Say Meyer Syndrome 1
paths to the root