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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 TDO2 on chromosome 4q32.1. (DO)
Synonyms:exact_synonym: HYPTRP
 primary_id: MESH:C563467
 alt_id: OMIM:600627
 xref: GARD:2871;   ORDO:2224
For additional species annotation, visit the Alliance of Genome Resources.


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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: Hypertryptophanemia, familial ClinVar
OMIM
PMID:28285122 NCBI chr 2:180,897,059...180,914,919
Ensembl chr 2:180,897,011...180,914,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        inherited metabolic disorder 2233
          amino acid metabolic disorder 432
            Hypertryptophanemia 1
              familial hypertryptophanemia 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                familial hypertryptophanemia 1
paths to the root