Disease association ontology term - MONDO:0013000 - porphyria due to ALA dehydratase deficiency
Term summary
- ID
- MONDO:0013000
- Name
- porphyria due to ALA dehydratase deficiency
- Ontology or CV name
- Disease association
- Definition
- A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented.
