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

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:799.89 (i2s)
  • NCIT:C3101 (MONDO:equivalentTo)
  • SCTID:32895009 (MONDO:equivalentTo)
  • EFO:0000508 (MONDO:equivalentTo)
  • MESH:D030342 (MONDO:equivalentTo)
  • UMLS:C0019247 (NCIT:C3101)
  • DOID:630 (MONDO:equivalentTo)
closeMatch

http://identifiers.org/snomedct/264530000

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

definition

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

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

has broad synonym

genetic condition

genetic disorder

genetic disease

has exact synonym

molecular disease

hereditary disease

hereditary diseases

inherited disease

inherited genetic disease

hereditary disease or disorder

has related synonym

inborn disorder

familial disorder

id

MONDO:0003847

Term relations