Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

ciliopathy

Synonyms

Ciliopathies

Definitions

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

ID

http://purl.obolibrary.org/obo/MONDO_0005308

database_cross_reference

UMLS:CN580792

DOID:0060340

EFO:0003900

GTR:AN0966173

definition

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN580792

http://purl.obolibrary.org/obo/DOID_0060340

has_related_synonym

Ciliopathies

id

MONDO:0005308

label

ciliopathy

notation

MONDO:0005308

prefLabel

ciliopathy

treeView

http://purl.obolibrary.org/obo/MONDO_0021197

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0021197

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

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Delete Mapping To Ontology Source
http://purl.jp/bio/4/id/201206034751564078 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_0060340 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060340 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060340 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060340 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060340 NIFSTD LOOM
http://www.orpha.net/ORDO/Orphanet_363250 ORDO LOOM
http://www.ebi.ac.uk/efo/EFO_0003900 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0003900 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0003900 EFO LOOM