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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:hydroxykynureninuria
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Accession:DOID:0112257 term browser browse the term
Definition:An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2. (DO)
Synonyms:exact_synonym: KYNURENINASE DEFICIENCY, PARTIAL;   kynureninase deficiency;   xanthurenic aciduria
 primary_id: MESH:C536081
 alt_id: DOID:9002475;   OMIM:236800
 xref: GARD:10039;   ORDO:79155
For additional species annotation, visit the Alliance of Genome Resources.



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hydroxykynureninuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydroxykynureninuria
OMIM
CTD
ClinVar
PMID:17334708 PMID:25741868 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          amino acid metabolic disorder 802
            hydroxykynureninuria 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                hydroxykynureninuria 1
paths to the root