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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:Tenorio Syndrome
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Accession:DOID:9000905 term browser browse the term
Definition:A syndrome characterized by overgrowth, macrocephaly, and intellectual disability. (OMIM)
Synonyms:exact_synonym: OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME;   TNORS
 primary_id: OMIM:616260;   RDO:9001587
For additional species annotation, visit the Alliance of Genome Resources.


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Tenorio Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541, PMID:25741868, PMID:28492532 NCBI chr18:15,193,226...15,225,454
Ensembl chr18:15,192,962...15,225,427
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            thalamic disease 192
              hypothalamic disease 192
                pituitary gland disease 147
                  hyperpituitarism 36
                    Gigantism 10
                      Tenorio Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.