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oculoosteocutaneous syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0008884:  oculoosteocutaneous syndrome
MESH:C565893: 
Orphanet:2713: 
SCTID:722061006: 
UMLS:C1859385: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found