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retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0044634:  retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Orphanet:494439: 
UMLS:C4540367: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found