Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

familial cystic renal disease
Synonyms

hereditary cystic kidney disease

Definitions

An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.

ID

http://purl.obolibrary.org/obo/MONDO_0019741

database_cross_reference

MEDGEN:1842297

UMLS:C5680285

Orphanet:93587

GARD:19228

definition

An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.

exactMatch

http://identifiers.org/medgen/1842297

http://purl.obolibrary.org/obo/Orphanet_93587

http://linkedlifedata.com/resource/umls/id/C5680285

has_exact_synonym

hereditary cystic kidney disease

id

MONDO:0019741

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

familial cystic renal disease

notation

MONDO:0019741

preferred label

familial cystic renal disease

prefLabel

familial cystic renal disease

subClassOf

http://www.ebi.ac.uk/efo/EFO_0008615

http://purl.obolibrary.org/obo/MONDO_0100191

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