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| Term | porphyria | ID (Ontology) | DOID:13268 (Human Disease) |
| Definition | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. | ||
| Also Known As | "disorder of porphyrin and hem metabolism" ; "disorder of porphyrin metabolism" ; "Hematoporphyria" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease of metabolism__ genetic disease________| inherited metabolic disorder |__porphyria 27 rec. |__acute porphyria 7 rec. | |__acute intermittent porphyria 1 rec. | |__erythropoietic protoporphyria 2 rec. | |__hepatoerythropoietic porphyria | |__hereditary coproporphyria 1 rec. | |__porphyria cutanea tarda 1 rec. | |__variegate porphyria 1 rec. |__cutaneous porphyria 2 rec. |
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| Is a | inherited metabolic disorder | ||
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GARD:10353 ICD10CM:E80.20 ICD9CM:277.1 MESH:D011164 NCI:C97096 SNOMEDCT_US_2023_03_01:190912004 UMLS_CUI:C0032708 |
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