An inherited metabolic disorder characterized by iron accumulation in the tissues. [ NCIT:P378 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0010746 (MONDO:equivalentTo)
  • ICD10:E83.110 (MONDO:equivalentTo)
  • COHD:4148231 (MONDO:equivalentTo)
  • EFO:1000642 (MONDO:equivalentTo)
  • DOID:2352 (MONDO:equivalentTo)
  • SCTID:399187006 (MONDO:equivalentTo)
  • ICD10:E83.11 (DOID:2352)
  • MESH:D006432 (MONDO:equivalentTo)
  • ICD10:E83.119 (DOID:2352)
  • OMIMPS:235200 (MONDO:equivalentTo)
  • NCIT:C84481 (MONDO:equivalentTo)
closeMatch

http://identifiers.org/snomedct/267504005

http://identifiers.org/snomedct/86781004

http://identifiers.org/snomedct/399144008

http://identifiers.org/snomedct/154751003

http://www.orpha.net/ORDO/Orphanet_139498

http://linkedlifedata.com/resource/umls/id/C0018995

comment

Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052

definition

An inherited metabolic disorder characterized by iron accumulation in the tissues.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84481

http://identifiers.org/mesh/D006432

http://purl.obolibrary.org/obo/DOID_2352

http://identifiers.org/snomedct/399187006

has broad synonym

haemochromatosis

hemochromatosis

has exact synonym

iron storage disorder

hemochromatosis, hereditary

diabetes bronze

id

MONDO:0006507

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml