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Reference

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Proteins
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Materials
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Diseases

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A reference for what the literature reports. Not medical advice.

Disease

inherited porphyria

MONDO:0019142Mondo

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Findings

No curated finding names inherited porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.

Definition from the Mondo Disease Ontology (MONDO:0019142), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary photodermatosis
inborn disorder of porphyrin metabolism
porphyria
Narrower terms (9): chester porphyria
CPOX-related hereditary coproporphyria
cutaneous porphyria
erythropoietic protoporphyria
erythropoietic uroporphyria associated with myeloid malignancy
HMBS-related hepatic porphyria
porphyria due to ALA dehydratase deficiency
PPOX-related hepatic porphyria
UROD-related inherited porphyria

Other names

1 name

Resolves to: inherited porphyria

Also called: hereditary porphyria