You are using an outdated browser. Please upgrade your browser to improve your experience.

progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tdark

1


Explore Associated Targets
Uniprot Description An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0014748:  progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Orphanet:457395: 
UMLS:C4225232: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found