GenEpiO / 基因组流行病学本体

Last uploaded: September 8, 2023
Preferred Name

autosomal genetic disease

Synonyms

autosomal inherited disease

autosomal hereditary disorder

autosomal inherited disorder

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

database_cross_reference

ICD9:758.5

UMLS:C0265384

SCTID:1899006

DOID:0050739

definition

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

has exact synonym

autosomal inherited disease

autosomal hereditary disorder

autosomal inherited disorder

imported from

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

label

autosomal genetic disease

prefixIRI

MONDO:0000429

prefLabel

autosomal genetic disease

subClassOf

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

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