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

Disease Summary
Associated Targets (1)
Tdark

1


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: