Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

autosomal recessive disease
Synonyms

recessive hereditary disorder (autosomal)

autosomal recessive inherited disorder

disease, autosomal recessive

autosomal recessive hereditary disorder

autosomal recessive disease or disorder

autosomal recessive inherited disease

disease or disorder, autosomal recessive

autosomal recessive hereditary disease

Definitions

Autosomal recessive form of disease.

ID

http://purl.obolibrary.org/obo/MONDO_0006025

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml

exactMatch

http://linkedlifedata.com/resource/umls/id/C0265388

http://identifiers.org/snomedct/85995004

http://purl.obolibrary.org/obo/DOID_0050737

has characteristic

http://purl.obolibrary.org/obo/HP_0000007

hasDbXref

SCTID:85995004

UMLS:C0265388

EFO:1000017

DOID:0050737

ICD9:758.5

hasExactSynonym

autosomal recessive inherited disorder

disease, autosomal recessive

autosomal recessive hereditary disorder

autosomal recessive disease or disorder

autosomal recessive inherited disease

disease or disorder, autosomal recessive

autosomal recessive hereditary disease

hasRelatedSynonym

recessive hereditary disorder (autosomal)

IAO_0000115

Autosomal recessive form of disease.

id

MONDO:0006025

label

autosomal recessive disease

notation

MONDO:0006025

prefLabel

autosomal recessive disease

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000001

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

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