OnlineIMD
Urocanase deficiency
Synonym(s)
Urocanic aciduria
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
UROC1
/ Urofacial Syndrome 1
3q21.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Urofacial syndrome 1 protein
Pathway
Histidine metabolism
Disease group(s)
1.10 Disorders of histidine metabolism