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Summary Literature (0)
DOID:13268 - porphyria

Disease Ontology Definition:An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

Synonyms: disorder of porphyrin and hem metabolism, disorder of porphyrin metabolism, Hematoporphyria, Porphyrinopathy

Xenbase Genes : gata1, alas2, hmbs.2, urod, cpox, fech, alad, uros, ppox, hmbs

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019142 - inherited porphyria


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): inherited metabolic disorder (is_a)