GenEpiO / 基因组流行病学本体

Last uploaded: September 8, 2023
Preferred Name

hereditary disease

Synonyms

genetic disease

hereditary disease or disorder

hereditary diseases

Mendelian disease

inherited genetic disease

hereditary disease

inherited disease

genetic condition

molecular disease

genetic disorder

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.

database_cross_reference

ICD9:799.89

SCTID:32895009

EFO:0000508

NCIT:C3101

UMLS:C0019247

DOID:630

MESH:D030342

definition

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

has exact synonym

hereditary disease or disorder

hereditary diseases

inherited genetic disease

hereditary disease

inherited disease

molecular disease

has narrow synonym

Mendelian disease

has_broad_synonym

genetic disease

genetic condition

genetic disorder

imported from

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

inSubset

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

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

label

hereditary disease

prefixIRI

MONDO:0003847

prefLabel

hereditary disease

subClassOf

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

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http://purl.obolibrary.org/obo/DOID_630 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集 LOOM
http://purl.obolibrary.org/obo/MONDO_0003847 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0003847 Mondo Disease Ontology / Mondo疾病本体 SAME_URI