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oculotrichodysplasia

Disease Summary
Associated Targets (0)

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Mondo Description Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009771:  oculotrichodysplasia
MESH:C564934: 
Orphanet:2718: 
SCTID:722062004: 
UMLS:C1850332: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found