[NTR/gene] OFD1-related ciliopathy

[mafaldacst]

Preferred gene-related syndrome label
OFD1-related ciliopathy

Synonyms

Parent term (use OLS, or your favorite ontology browser)
ciliopathy MONDO:0005308

Definition
Any ciliopathy caused by monoallelic, biallelic or hemizygous variants in the OFD1 gene, which can include conditions described as orofacialdigital syndrome I, Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2, retinitis pigmentosa 23, or primary ciliary dyskinesia.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
Motile Ciliopathy GCEP

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
orofacialdigital syndrome I, Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2, retinitis pigmentosa 23

Your nano-attribution (ORCID) or URL for a working group
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https://clinicalgenome.org/affiliation/40102/