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

spondyloepimetaphyseal dysplasia, Maroteaux type

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Uniprot Description A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal.
Mondo Term and Equivalent IDs
MONDO:0008473:  spondyloepimetaphyseal dysplasia, Maroteaux type
DOID:0111553: 
GARD:0000994: 
Orphanet:263482: 
SCTID:719204007: 
UMLS:CN202294: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found