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Disease Ontology Browser
porphyria (DOID:13268)
Alliance: disease page
Synonyms: disorder of porphyrin and hem metabolism; disorder of porphyrin metabolism; Hematoporphyria; Porphyrinopathy
Alt IDs: ICD10CM:E80.20, ICD9CM_2006:277.1, ICD9CM:277.1, MESH:D011164, NCI:C97096, UMLS_CUI:C0032708
Definition: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

Disease References using Mouse Models (16)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory