Details of Disease

General Information of Disease (ID: DIS8I5LT)

Disease Name Harderoporphyria
Synonyms HARDEROPORPHYRIA; HARPO; harderoporphyria
Disease Hierarchy
DISKRUWP: CPOX-related hereditary coproporphyria
DIS8I5LT: Harderoporphyria
Disease Identifiers
MONDO ID
MONDO_0030048
MESH ID
C562816
UMLS CUI
C0342859
OMIM ID
618892
MedGen ID
137981
SNOMED CT ID
238056003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPOX OTIAY121 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.