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DO Term : hemochromatosis type 3 [DOID:0111030] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

synonyms:
hemochromatosis due to defect in transferrin receptor 2,
HFE3,
SNOMEDCT_US_2023_03_01:719974003,
604250,
TFR2-related hemochromatosis,
ORDO:225123,
MESH:C537248,
UMLS_CUI:C1858664,
GARD:10093,
OMIM:604250

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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