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Ontology explorer

Medical Subject Headings (MeSH)
Version 2022-01-01
use AND (NOT) or OR
use AND (NOT) or OR
use AND (NOT) or OR
use AND (NOT) or OR
causal interaction   diagnostic usage   ongoing research   therapeutic application
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Details for Porphyrias
Medical Subject Headings (MeSH) ID
MESH:C.18.452.811
MESH:C.18.452.811 is linked to 103 enzymes:
Definition
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Synonyms
1. Porphyrias
2. Porphyria
3. Porphyrin Disorder
4. Disorder, Porphyrin
5. Disorders, Porphyrin
6. Porphyrin Disorders
References
1. MESH: C.18.452.811
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is a part of the parent element
is related to the parent element
derives from the parent element

Categories:
Causal interaction
Diagnostic usage
Ongoing research
Therapeutic application
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