has material basis in germline mutation in UROS familial hemolytic anemia cutaneous porphyria https://github.com/monarch-initiative/mondo/issues/9703 https://www.malacards.org/card/porphyria_congenital_erythropoietic OMIM:263700 NORD:1599 Uros deficiency SCTID:67312003 erythropoietic porphyria UROS-related erythropoietic porphyria GARD:0004446 NANDO:1200817 porphyria, congenital erythropoietic UMLS:C5886774 uroporphyrinogen III synthase, deficiency of MESH:D017092 Günther disease DOID:13271 MEDGEN:1861084 Gunther disease MONDO:0009902 congenital porphyria Cep Congenital Erythropoietic Porphyria Orphanet:79277 cutaneous porphyria An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms. NANDO:2201268 uroporphyrinogen 3 synthase deficiency congenital erythropoietic porphyria CEP NCIT:C84697 inherited porphyria anemia due to erythrocyte enzyme disorder