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osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.
Mondo Term and Equivalent IDs
MONDO:0017041:  osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
GWAS Targets (0)
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Target Novelty (Tin-x)
No novelty measurements found