| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (Human Disease Ontology, DOID_13268) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005654 |
| Similar Terms | |
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4 gene mutations causing the porphyria phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
