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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;   RNF125-RELATED CONDITION;   TNORS
 primary_id: OMIM:616260

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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: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chrNW_004955402:19,276,157...19,310,605
Ensembl chrNW_004955402:19,295,809...19,309,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal dominant disease 5744
                complex cortical dysplasia with other brain malformations 1525
                  Malformations of Cortical Development, Group I 1320
                    Macrocephaly 82
                      Tenorio Syndrome 1
paths to the root