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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:familial hypertryptophanemia
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Accession:DOID:0111703 term browser browse the term
Definition:An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. (DO)
Synonyms:exact_synonym: HYPTRP
 primary_id: MESH:C563467
 alt_id: OMIM:600627
 xref: GARD:2871;   ORDO:2224


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familial hypertryptophanemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdo2 tryptophan 2,3-dioxygenase ISO ClinVar Annotator: match by term: Familial hypertryptophanemia ClinVar
OMIM		 PMID:28285122 NCBI chr 3:81,865,719...81,883,035
Ensembl chr 3:81,864,397...81,883,509 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        inherited metabolic disorder 5665
          amino acid metabolic disorder 1526
            Hypertryptophanemia 1
              familial hypertryptophanemia 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6605
                familial hypertryptophanemia 1
paths to the root