otopalatodigital syndrome spectrum disorder
http://purl.obolibrary.org/obo/MONDO_0018233
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. [ Orphanet:364541 ]
Term info
- Orphanet:364541 (MONDO:equivalentTo)
- DOID:0111782 (MONDO:equivalentTo)
- UMLS:C2748918 (Orphanet:364541)
disease_grouping, ordo_group_of_disorders
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.
http://purl.obolibrary.org/obo/DOID_0111782, http://purl.obolibrary.org/obo/Orphanet_364541, http://linkedlifedata.com/resource/umls/id/C2748918
OPD spectrum disorder, OPSD
MONDO:0018233