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- B95595f8866ce7d6505fd3d2bccee9424 hasDbXref "Orphanet:364541" @default.
- B95595f8866ce7d6505fd3d2bccee9424 type Axiom @default.
- B95595f8866ce7d6505fd3d2bccee9424 annotatedProperty IAO_0000115 @default.
- B95595f8866ce7d6505fd3d2bccee9424 annotatedSource MONDO_0018233 @default.
- B95595f8866ce7d6505fd3d2bccee9424 annotatedTarget "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." @default.