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Disease association ontology term - MONDO:0700378 - WDPCP-related ciliopathy

Term summary

ID
MONDO:0700378
Name
WDPCP-related ciliopathy
Ontology or CV name
Disease association
Definition
Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly.

Parents

Annotation

Disease association

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

References:

Genes: