Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0000429
Preferred Name	autosomal genetic disease
Definitions	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms	autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder
Type	http://www.w3.org/2002/07/owl#Class

definition	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
label	autosomal genetic disease
prefLabel	autosomal genetic disease
database_cross_reference	UMLS:C0265384 MEDGEN:539205 DOID:0050739 SCTID:1899006 ICD9:758.5
notation	MONDO:0000429
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar
id	MONDO:0000429
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0265384 http://identifiers.org/snomedct/1899006 http://identifiers.org/medgen/539205 http://purl.obolibrary.org/obo/DOID_0050739
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003847
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder
treeView	http://purl.obolibrary.org/obo/MONDO_0003847

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