Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

hereditary hemochromatosis

Synonyms

haemochromatosis

hemochromatosis

diabetes bronze

iron storage disorder

hemochromatosis, hereditary

Definitions

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

ID

http://purl.obolibrary.org/obo/MONDO_0006507

database_cross_reference

SCTID:399187006

NCIT:C84481

ICD10CM:E83.110

OMIMPS:235200

MESH:D006432

SCTID:35400008

DOID:2352

definition

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

exactMatch

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

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

https://omim.org/phenotypicSeries/PS235200

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

http://identifiers.org/mesh/D006432

http://identifiers.org/snomedct/35400008

has_broad_synonym

haemochromatosis

hemochromatosis

has_exact_synonym

diabetes bronze

iron storage disorder

hemochromatosis, hereditary

IAO_0000233

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

id

MONDO:0006507

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

label

hereditary hemochromatosis

notation

MONDO:0006507

preferred label

hereditary hemochromatosis

prefLabel

hereditary hemochromatosis

relatedMatch

http://identifiers.org/snomedct/399187006

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004689

http://purl.obolibrary.org/obo/MONDO_0001436

http://purl.obolibrary.org/obo/MONDO_0017763

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