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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: FIBP-RELATED CONDITION;   TROFAS
 primary_id: MIM:617107;   RDO:9001588


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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: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 PMID:28492532 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 19134
    syndrome 11370
      THAUVIN-ROBINET-FAIVRE SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                complex cortical dysplasia with other brain malformations 1640
                  Malformations of Cortical Development, Group I 1398
                    Macrocephaly 90
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
paths to the root