Urocanase deficiency

Preferred Label : Urocanase deficiency;

Symbol : UROCD;

CISMeF acronym : UROCD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Urocanase domain-containing protein 1 gene (UROC1, 613012.0001);

Laboratory abnormalities : Urocanase deficiency;

Prefixed ID : #276880;

Details

Origin ID

276880;

UMLS CUI

C0268514;

Currated CISMeF NLP mapping
- Urocanase deficiency [MeSH concept]
- Urocanate hydratase deficiency (disorder) [SNOMED CT concept]
- Urocanic aciduria [ICD-11 Sub-sub category]
- Urocanic aciduria [HPO term]
- Urocanic aciduria [ORDO Disease]
- urocanase deficiency [MeSH Supplementary Concept]
- urocanate hydratase deficiency [SNOMED Notion]
Genes related to phenotype
- Urocanase domain-containing protein 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blond hair [HPO term]
- Blue irides [HPO term]
- Fair hair [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Nystagmus [HPO term]
- Short stature [HPO term]
- Tremor [HPO term]
- Urocanic aciduria [HPO term]
ORDO concept(s)
- Urocanic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Urocanase deficiency [MeSH concept]
- Urocanate hydratase deficiency (disorder) [SNOMED CT concept]
- Urocanic aciduria [HPO term]
- Urocanic aciduria [ORDO Disease]
- Urocanic aciduria [ICD-11 Sub-sub category]
- urocanase deficiency [MeSH Supplementary Concept]
- urocanase deficiency [DO Concept]
- urocanate hydratase deficiency [SNOMED Notion]

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