JSON

hereditary disease

Go to external page 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. [ https://orcid.org/0000-0002-6601-2165 ]

Synonyms: molecular disease hereditary disease hereditary diseases inherited disease inherited genetic disease hereditary disease or disorder

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D030342 (MONDO:equivalentTo)
  • MEDGEN:5527 (MONDO:equivalentTo)
  • UMLS:C0019247 (MONDO:equivalentTo)
  • EFO:0000508 (MONDO:equivalentTo)
  • ICD9:799.89 (MONDO:relatedTo)
  • NCIT:C3101 (MONDO:equivalentTo)
  • SCTID:32895009 (MONDO:equivalentTo)
  • DOID:630 (MONDO:equivalentTo)
Subsets

otar, harrisons_view, rare_grouping

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.

conformsTo

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

exactMatch

http://identifiers.org/snomedct/32895009

http://purl.obolibrary.org/obo/NCIT_C3101

http://purl.obolibrary.org/obo/DOID_630

http://identifiers.org/mesh/D030342

http://identifiers.org/medgen/5527

http://linkedlifedata.com/resource/umls/id/C0019247

has broad synonym

genetic condition

genetic disorder

genetic disease

has narrow synonym

Mendelian disease

has related synonym

inborn disorder

familial disorder

id

MONDO:0003847