Mondo Disease Ontology

Last uploaded: March 4, 2024
Preferred Name

ciliopathy

Synonyms

ciliopathy

ciliopathies

Definitions

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

GARD:21544

DOID:0060340

Orphanet:363250

UMLS:C4277690

EFO:0003900

GTR:AN0966173

definition

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

exactMatch

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

http://purl.obolibrary.org/obo/Orphanet_363250

http://linkedlifedata.com/resource/umls/id/C4277690

has_exact_synonym

ciliopathy

has_related_synonym

ciliopathies

id

MONDO:0005308

in_subset

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

http://purl.obolibrary.org/obo/mondo#orphanet_rare

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

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

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

label

ciliopathy

notation

MONDO:0005308

prefLabel

ciliopathy

treeView

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

subClassOf

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

Delete Subject Author Type Created
No notes to display