hemochromatosis type 4

hemochromatosis type 4

http://purl.obolibrary.org/obo/DOID_0111028

A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/11431687 ]

Synonyms: autosomal dominant hereditary hemochromatosis HFE4 ferroportin disease hemochromatosis due to defect in ferroportin

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This is just here as a test because I lose it

Term information

database cross reference

MIM:606069
ORDO:139491
SNOMEDCT_US_2023_03_01:719975002
MESH:C537249
UMLS_CUI:C1853733
GARD:10094

Subsets

DO_rare_slim

acronym

HFE4

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disease_ontology

DOID:0111028

Term relations

Subclass of:

hemochromatosis
disease has basis in some structural_variant