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even-plus syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Uniprot Description An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.
Mondo Term and Equivalent IDs
MONDO:0014801:  even-plus syndrome
Orphanet:496751: 
UMLS:C4225180: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found