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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;   tall stature-intellectual disability-renal anomalies syndrome
 broad_synonym: FIBP-related condition
 xref: MIM:617107;   MONDO:0014918


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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: FIBP-related condition | ClinVar Annotator: match by term: Tall stature-intellectual disability-renal anomalies syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 PMID:28492532 PMID:36919607 More... NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:212,197,416...212,201,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      THAUVIN-ROBINET-FAIVRE SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    THAUVIN-ROBINET-FAIVRE SYNDROME 1
paths to the root