syndromic disease orofaciodigital syndrome I https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/orofaciodigital_syndrome_i oral-facial-digital syndrome 1 orofaciodigital syndrome i, X-linked dominant orofaciodigital syndrome 1 OFDSI oral facial digital syndrome 1 https://github.com/monarch-initiative/mondo/issues/8728 orofaciodigital syndrome type 1 orofaciodigital syndrome I orofaciodigital syndrome type I OFDS 1 oral-facial-digital syndrome type 1 UMLS:C1510460 OMIM:311200 OFD1 OFD syndrome 1 A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. MESH:C537134 Orphanet:2750 oral-facial-digital syndrome, type 1 NCIT:C75481 Papillon-league-Psaume syndrome (formerly) GARD:0004121 OFDI Papillon-Leage and Psaume syndrome MONDO:0010702 Papillon-Léage-Psaume syndrome SCTID:763833006 oral facial digital syndrome type 1 MEDGEN:307142 DOID:0060316 orofaciodigital syndrome ectodermal dysplasia syndrome X-linked syndromic intellectual disability hereditary sebaceous gland anomaly Mendelian neurodevelopmental disorder OFD1-related ciliopathy