JSON

hereditary disease

^ http://purl.obolibrary.org/obo/MONDO_0003847

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. [ MONDO:cjm ]

Term info

database cross reference
  • NCIT:C3101 (MONDO:equivalentTo)
  • SCTID:32895009 (MONDO:equivalentTo)
  • UMLS:C0019247 (NCIT:C3101)
  • DOID:630 (MONDO:equivalentTo)
  • MESH:D030342 (MONDO:equivalentTo)
  • ICD9:799.89 (MONDO:relatedTo)
  • EFO:0000508 (MONDO:equivalentTo)
Subsets

harrisons_view

comment

Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.

definition

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3101, http://identifiers.org/snomedct/32895009, http://purl.obolibrary.org/obo/DOID_630, http://identifiers.org/mesh/D030342, http://linkedlifedata.com/resource/umls/id/C0019247

has broad synonym

genetic disorder, genetic condition, genetic disease

has exact synonym

hereditary disease, molecular disease, hereditary diseases, inherited disease, inherited genetic disease, hereditary disease or disorder

has narrow synonym

Mendelian disease

has related synonym

inborn disorder, familial disorder

id

MONDO:0003847