Disease association ontology term - MONDO:0019142 - inherited porphyria

Term summary

ID

MONDO:0019142

Name

inherited porphyria

Ontology or CV name

Disease association

Definition

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

Parents

• excluded_subClassOf obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
• is_a hereditary photodermatosis
• is_a inborn disorder of porphyrin metabolism
• is_a porphyria

Annotation