Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:THAUVIN-ROBINET-FAIVRE SYNDROME
go back to main search page
Accession:DOID:9007012 term browser browse the term
Definition:An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)
Synonyms:exact_synonym: TROFAS
 primary_id: OMIM:617107;   RDO:9001588
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar
OMIM
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      THAUVIN-ROBINET-FAIVRE SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hyperpituitarism 34
                    Gigantism 9
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
paths to the root