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autosomal recessive brachyolmia

Disease Summary
Associated Targets (0)

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Mondo Description Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Mondo Term and Equivalent IDs
MONDO:0018662:  autosomal recessive brachyolmia
Orphanet:448242: 
UMLS:CN237725: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found