Preferred Name

hereditary disease

Synonyms

hereditary disease or disorder

inherited genetic disease

molecular disease

hereditary disease

hereditary diseases

inherited disease

genetic condition

genetic disorder

genetic disease

Mendelian disease

Definitions

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

ID

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

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.

has broad synonym

genetic condition

genetic disorder

genetic disease

has exact synonym

hereditary disease or disorder

inherited genetic disease

molecular disease

hereditary disease

hereditary diseases

inherited disease

has narrow synonym

Mendelian disease

hasDbXref

UMLS:C0019247

EFO:0000508

MESH:D030342

ICD9:799.89

SCTID:32895009

DOID:630

NCIT:C3101

imported from

http://purl.obolibrary.org/obo/mondo.owl

inSubset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#rare_grouping

http://purl.oboInOwllibrary.org/oboInOwl/mondo#harrisons_view

label

hereditary disease

prefixIRI

MONDO:0003847

prefLabel

hereditary disease

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0700096

Delete Subject Author Type Created
No notes to display