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 |
|
conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
|
database_cross_reference |
DOID:0060340 Orphanet:363250 EFO:0003900 UMLS:CN580792 GTR:AN0966173 |
|
disease has basis in dysfunction of | ||
exactMatch |
http://purl.obolibrary.org/obo/DOID_0060340 |
|
has related synonym |
ciliopathies |
|
id |
MONDO:0005308 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
label |
ciliopathy |
|
notation |
MONDO:0005308 |
|
prefLabel |
ciliopathy |
|
textual definition |
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000001 |
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