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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:THAUVIN-ROBINET-FAIVRE SYNDROME
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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.


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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:26660953, PMID:27183861 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      THAUVIN-ROBINET-FAIVRE 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
                      THAUVIN-ROBINET-FAIVRE 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.