Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

nephronophthisis (disease)
Synonyms

nephronophthisis

medullary cystic kidney

medullary cystic disease
Definitions

Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
ID

http://purl.obolibrary.org/obo/MONDO_0019005
closeMatch

http://identifiers.org/snomedct/204961009

http://identifiers.org/snomedct/204958008
database_cross_reference

NCIT:C123200

GARD:0000206

UMLS:C0687120

OMIMPS:256100

UMLS:C2939174

HP:0000090

DOID:12712

Orphanet:655

ICD10:Q61.5
exactMatch

http://purl.obolibrary.org/obo/NCIT_C123200

http://www.orpha.net/ORDO/Orphanet_655

http://linkedlifedata.com/resource/umls/id/C2939174

http://linkedlifedata.com/resource/umls/id/C0687120

http://purl.obolibrary.org/obo/DOID_12712
has exact synonym

nephronophthisis

medullary cystic kidney

medullary cystic disease
id

MONDO:0019005
imported from

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

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare
label

nephronophthisis (disease)
notation

MONDO:0019005
prefLabel

nephronophthisis (disease)
should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
textual definition

Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019744

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

http://purl.obolibrary.org/obo/MONDO_0015962
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