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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    Macrocephaly 87
                      Tenorio Syndrome 1
paths to the root