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metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.
Mondo Term and Equivalent IDs
MONDO:0009598:  metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
MESH:C565398: 
Orphanet:166035: 
UMLS:C1855188: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found