JSON

hemochromatosis type 3

^ http://purl.obolibrary.org/obo/MONDO_0011417

Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. [ Orphanet:225123 ]

Term info

database cross reference
  • OMIM:604250 (Orphanet:225123/e)
  • Orphanet:225123 (OMIM:604250)
  • GARD:0010093 (MONDO:equivalentTo)
  • UMLS:C1858664 (Orphanet:225123/e)
  • SCTID:719974003 (MONDO:equivalentTo)
  • MESH:C537248 (Orphanet:225123/e)
  • DOID:0111030 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
HFE3 [ DOID:0111030 OMIM:604250 MONDO:Lexical ]

definition

Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_225123, http://purl.obolibrary.org/obo/DOID_0111030, http://linkedlifedata.com/resource/umls/id/C1858664, https://omim.org/entry/604250, http://identifiers.org/mesh/C537248, http://identifiers.org/snomedct/719974003

has exact synonym

TFR2 hereditary hemochromatosis, hemochromatosis due to defect in transferrin receptor 2, TFR2-related hemochromatosis, hemochromatosis type 3, hereditary hemochromatosis caused by mutation in TFR2, HFE3

has related synonym

hemochromatosis, type 3

id

MONDO:0011417

seeAlso

https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3

Term relations