JSON

hereditary hemochromatosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0006507

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

Synonyms: iron storage disorder hemochromatosis, hereditary diabetes bronze

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:E83.110 (MONDO:equivalentTo)
  • DOID:2352 (MONDO:equivalentTo)
  • NCIT:C84481 (MONDO:equivalentTo)
  • SCTID:399187006 (MONDO:relatedTo)
  • MESH:D006432 (MONDO:equivalentTo)
  • MEDGEN:140272 (MONDO:equivalentTo)
  • SCTID:35400008 (MONDO:equivalentTo)
  • UMLS:C0392514 (MONDO:equivalentTo)
  • OMIMPS:235200 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3557

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

exactMatch

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

http://identifiers.org/snomedct/35400008

http://linkedlifedata.com/resource/umls/id/C0392514

http://identifiers.org/mesh/D006432

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

https://omim.org/phenotypicSeries/PS235200

http://identifiers.org/medgen/140272

http://purl.bioontology.org/ontology/ICD10CM/E83.110

has broad synonym

haemochromatosis

hemochromatosis

id

MONDO:0006507

relatedMatch

http://identifiers.org/snomedct/399187006