has material basis in germline mutation in OFD1 ciliopathy OFD1-related ciliopathy https://github.com/monarch-initiative/mondo/issues/8728 https://github.com/monarch-initiative/mondo/issues/9718 OFD1-related ciliopathy MONDO:1040039 GARD:0028143 Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.