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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 ClinVar Annotator: match by OMIM:236800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17334708 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Nutritional and Metabolic Diseases 5216
      disease of metabolism 5216
        inherited metabolic disorder 2444
          amino acid metabolic disorder 448
            hydroxykynureninuria 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal recessive disease 3236
                hydroxykynureninuria 1
paths to the root