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Disease association ontology term - MONDO:0005308 - ciliopathy

Term summary

ID
MONDO:0005308
Name
ciliopathy
Ontology or CV name
Disease association
Definition
A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

Parents

Annotation

Disease association

MONDO:0009008 - heart defect - tongue hamartoma - polysyndactyly syndrome

References:

Genes:

MONDO:0060650 - Leber congenital amaurosis with early-onset deafness

References:

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

References:

Genes:

MONDO:0014909 - primary ciliary dyskinesia 34

References:

Genes:

MONDO:0054565 - short-rib thoracic dysplasia 17 with or without polydactyly

References:

Genes: