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retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Uniprot Description A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium.
Mondo Term and Equivalent IDs
MONDO:0014495:  retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Orphanet:436245: 
UMLS:C4015242: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found