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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 OMIM
ClinVar		 PMID:28285122 NCBI chrNW_004936576:2,537,702...2,555,790
Ensembl chrNW_004936576:2,537,702...2,555,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6754
      disease of metabolism 6754
        inherited metabolic disorder 5216
          amino acid metabolic disorder 1437
            Hypertryptophanemia 1
              familial hypertryptophanemia 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9616
            autosomal genetic disease 8900
              autosomal recessive disease 6226
                familial hypertryptophanemia 1
paths to the root