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otopalatodigital syndrome type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Uniprot Description Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects.
Mondo Term and Equivalent IDs
MONDO:0010571:  otopalatodigital syndrome type 2
DOID:0111784: 
GARD:0005802: 
MESH:C538089: 
Orphanet:90652: 
SCTID:42432003: