ZFIN Human Disease: urocanase deficiency

OBO ID: DOID:0112180

Term Name:	urocanase deficiency		Search Ontology:
Synonyms:	encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria UROCD
Definition:	A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. (2)
References:	GARD:8539 MESH:C536479 OMIM:276880 ORDO:210128 SNOMEDCT_US_2023_03_01:60952007 UMLS_CUI:C0268514
Ontology:	Human Disease ( DOID:0112180 )

Relationships

is a type of:	autosomal recessive disease histidine metabolism disease autosomal recessive disease histidine metabolism disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UROC1	uroc1	?Urocanase deficiency	276880

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None