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spondyloepimetaphyseal dysplasia, Shohat type

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Uniprot Description An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly.
Mondo Term and Equivalent IDs
MONDO:0011252:  spondyloepimetaphyseal dysplasia, Shohat type
GARD:0004980: 
MESH:C566523: 
Orphanet:93352: 
SCTID:719201004: 
UMLS:C1865185: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found