Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

autosomal genetic disease
Synonyms

autosomal inherited disorder

autosomal hereditary disorder

autosomal inherited disease

Definitions

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.

ID

http://purl.obolibrary.org/obo/MONDO_0000429

exactMatch

http://linkedlifedata.com/resource/umls/id/C0265384

http://identifiers.org/snomedct/1899006

http://purl.obolibrary.org/obo/DOID_0050739

hasDbXref

DOID:0050739

UMLS:C0265384

SCTID:1899006

ICD9:758.5

hasExactSynonym

autosomal inherited disorder

autosomal hereditary disorder

autosomal inherited disease

IAO_0000115

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.

id

MONDO:0000429

label

autosomal genetic disease

notation

MONDO:0000429

prefLabel

autosomal genetic disease

subClassOf

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

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