Hydroxykynureninuria

Preferred Label : Hydroxykynureninuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xanthurenic aciduria; Kynureninase deficiency, partial;

Inheritance : Autosomal recessive;

Prefixed ID : #236800;

Details

Origin ID

236800;

UMLS CUI

C0268474;

Currated CISMeF NLP mapping
- Encephalopathy due to hydroxykynureninuria [ICD-11 More detail]
- Hydroxykynureninuria [MeSH concept]
- Hydroxykynureninuria [ORDO Disease]
- Hydroxykynureninuria (disorder) [SNOMED CT concept]
- Kynureninase deficiency (disorder) [SNOMED CT concept]
- Xanthurenic aciduria (finding) [SNOMED CT concept]
- hydroxykynureninuria [MeSH Supplementary Concept]
- hydroxykynureninuria [SNOMED Notion]
- kynureninase deficiency [SNOMED Notion]
- xanthurenic aciduria [SNOMED Notion]
Genes related to phenotype
- Kynureninase [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Abnormality of the respiratory system [HPO term]
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Congenital deafness [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypertonia [HPO term]
- Hypotension [HPO term]
- Intellectual disability [HPO term]
- Metabolic acidosis [HPO term]
- Nonprogressive encephalopathy [HPO term]
- Psychomotor retardation [HPO term]
- Renal tubular dysfunction [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Hydroxykynureninuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy due to hydroxykynureninuria [ICD-11 More detail]
- Hydroxykynureninuria [MeSH concept]
- Hydroxykynureninuria [ORDO Disease]
- Hydroxykynureninuria (disorder) [SNOMED CT concept]
- Kynureninase deficiency (disorder) [SNOMED CT concept]
- Xanthurenic aciduria (finding) [SNOMED CT concept]
- hydroxykynureninuria [MeSH Supplementary Concept]
- hydroxykynureninuria [SNOMED Notion]
- kynureninase deficiency [SNOMED Notion]
- xanthurenic aciduria [SNOMED Notion]

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