hemochromatosis type 3

hemochromatosis type 3

http://purl.obolibrary.org/obo/DOID_0111030

A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/10802645 ]

Synonyms: hemochromatosis due to defect in transferrin receptor 2 TFR2-related hemochromatosis HFE3

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This is just here as a test because I lose it

Term information

database cross reference

UMLS_CUI:C1858664
GARD:10093
ORDO:225123
MESH:C537248
MIM:604250
SNOMEDCT_US_2023_03_01:719974003

Subsets

DO_rare_slim

acronym

HFE3

has obo namespace

disease_ontology

DOID:0111030

Term relations

Subclass of:

hemochromatosis
disease has basis in some structural_variant