Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

autosomal recessive disease

Synonyms

autosomal recessive inherited disorder

disease, autosomal recessive

autosomal recessive disease or disorder

autosomal recessive inherited disease

disease or disorder, autosomal recessive

autosomal recessive hereditary disease

autosomal recessive hereditary disorder

recessive hereditary disorder (autosomal)

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

database_cross_reference

UMLS:C0265388

EFO:1000017

SCTID:85995004

ICD9:758.5

DOID:0050737

exactMatch

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

http://identifiers.org/snomedct/85995004

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

has exact synonym

autosomal recessive inherited disorder

disease, autosomal recessive

autosomal recessive disease or disorder

autosomal recessive inherited disease

disease or disorder, autosomal recessive

autosomal recessive hereditary disease

autosomal recessive hereditary disorder

has modifier

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

has related synonym

recessive hereditary disorder (autosomal)

id

MONDO:0006025

imported from

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

label

autosomal recessive disease

notation

MONDO:0006025

prefLabel

autosomal recessive disease

textual definition

Autosomal recessive form of disease.

subClassOf

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

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

Delete Subject Author Type Created
No notes to display