Mondo Disease Ontology

Last uploaded: July 7, 2026
Id http://purl.obolibrary.org/obo/MONDO_0003847
http://purl.obolibrary.org/obo/MONDO_0003847
Preferred Name

hereditary 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.
Synonyms
hereditary disease or disorder
inherited genetic disease
molecular disease
hereditary disease
hereditary diseases
inherited disease
genetic condition
genetic disorder
genetic disease
Mendelian disease
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.
prefLabel
hereditary disease
label
hereditary disease
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_exact_synonym
hereditary disease or disorder
inherited genetic disease
molecular disease
hereditary disease
hereditary diseases
inherited disease
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exactMatch
type
has_narrow_synonym
Mendelian disease
id
MONDO:0003847
in_subset
notation
MONDO:0003847
conformsTo
database_cross_reference
UMLS:C0019247
EFO:0000508
MESH:D030342
MEDGEN:5527
ICD9:799.89
SCTID:32895009
DOID:630
NCIT:C3101
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has_broad_synonym
genetic condition
genetic disorder
genetic disease
subClassOf
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