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macular degeneration, age-related, 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.
Uniprot Description An autosomal dominant neuropathy of the Charcot-Marie-Tooth disease group, characterized by distal muscle weakness and atrophy variably affecting the lower and upper limbs. Distal sensory impairment and decreased nerve conduction velocities are present in most but not all patients. Additional variable features are age-related macular degeneration, joint hypermobility, and hyperelastic skin.
Mondo Term and Equivalent IDs
MONDO:0012145:  macular degeneration, age-related, 3
MESH:C563838: 
UMLS:C1837187: