Terminology Service for NFDI4Health
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genetic disorder

Go to external page http://www.ebi.ac.uk/efo/EFO_0000508

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

Term info

Label

genetic disorder

Synonyms
  • Mendelian disease
  • genetic disease
  • hereditary disease
  • hereditary disease or disorder
  • hereditary diseases
  • inherited disease
  • inherited genetic disease
  • molecular disease
database cross reference
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.

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 condition, genetic disorder, genetic disease

has related synonym

inborn disorder, familial disorder

id

EFO:0000508

term editor

James Malone

Term relations

Equivalent to:

Subclass of: