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Standards Ontologies Notations
hemochromatosis type 1

Summary
Synonym
  • HFE1
  • symptomatic form of HFE-related hereditary hemochromatosis
  • symptomatic form of classic hemochromatosis
  • symptomatic form of hemochromatosis type 1
Definition
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
Super Class
hemochromatosis
Disease Ontology
DOID:0111029
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
650 BMP2 bone morphogenetic protein 2
3077 HFE homeostatic iron regulator
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12156 Bmp2 bone morphogenetic protein 2
15216 Hfe homeostatic iron regulator
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29199 Hfe homeostatic iron regulator
29373 Bmp2 bone morphogenetic protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
33432 dpp decapentaplegic
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
397873 bmp2.L bone morphogenetic protein 2 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179068 dbl-1 Protein dbl-1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024