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otopalatodigital syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
Mondo Term and Equivalent IDs
MONDO:0019027:  otopalatodigital syndrome
GARD:0007293: 
Orphanet:669: 
SCTID:767130007: 
UMLS:CN205496: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found