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spondyloepimetaphyseal dysplasia, matrilin-3 type

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Uniprot Description A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.
Mondo Term and Equivalent IDs
MONDO:0012108:  spondyloepimetaphyseal dysplasia, matrilin-3 type
GARD:0010611: 
MESH:C563869: 
Orphanet:156728: 
SCTID:719166003: 
UMLS:C1837481: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found