JSON

hemochromatosis type 4

^ http://purl.obolibrary.org/obo/MONDO_0011631

Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. [ Orphanet:139491 ]

Term info

database cross reference
  • UMLS:C1853733 (Orphanet:139491/e)
  • MESH:C537249 (Orphanet:139491/e)
  • OMIM:606069 (Orphanet:139491/e)
  • SCTID:719975002 (MONDO:equivalentTo)
  • DOID:0111028 (MONDO:equivalentTo)
  • GARD:0010094 (MONDO:equivalentTo)
  • Orphanet:139491 (OMIM:606069)
Subsets

gard_rare, ordo_disease

abbreviation
HFE4 [ DOID:0111028 MONDO:Lexical OMIM:606069 ]

definition

Hemochromatosis type 4 (also called ferroportin disease) 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_139491, http://identifiers.org/mesh/C537249, http://linkedlifedata.com/resource/umls/id/C1853733, http://identifiers.org/snomedct/719975002, http://purl.obolibrary.org/obo/DOID_0111028, https://omim.org/entry/606069

has exact synonym

SLC40A1 hereditary hemochromatosis, hereditary hemochromatosis caused by mutation in SLC40A1, autosomal dominant hereditary hemochromatosis, HFE4, ferroportin disease, hemochromatosis due to defect in ferroportin

has related synonym

hemochromatosis, autosomal dominant, hemochromatosis, type 4

id

MONDO:0011631

seeAlso

https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4

Term relations