OnlineIMD
Congenital erythropoietic porphyria
Synonym(s)
Uroporphyrinogen III synthase deficiency
,
Günther disease
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
UROS
/ Uroporphyrinogen III Synthase
10q26.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Uroporphyrinogen III synthase
Disease group(s)
17.1 Disorders of heme synthesis and porphyrias