Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene. [ https://clinicalgenome.org/affiliation/40097/ MONDO:patterns/disease_series_by_gene ]
Synonyms: UROD-related inherited porphyria
This is just here as a test because I lose it
Term information
Subsets
rare, inferred_rare, clingen