Rare Disease Library

OBSOLETE: Inherited retinal disorder

OBSOLETE: Retinal dystrophy

Bothnia retinal dystrophy

Västerbotten dystrophy

Familial drusen

DHRD · Dominant drusen

North Carolina macular dystrophy

CAPE dystrophy · CAPED

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Cervical dystonia

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

OBSOLETE: Colobomatous and areolar dystrophy

OBSOLETE: Distal spinal muscular atrophy

OBSOLETE: Genetic macular dystrophy

OBSOLETE: Genetic optic atrophy

OBSOLETE: Genetic vitreous-retinal disease

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

OBSOLETE: Isolated chorioretinal dystrophy

OBSOLETE: Isolated inherited retinal disorder

OBSOLETE: Isolated macular dystrophy

OBSOLETE: Limb dystonia

OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome

OBSOLETE: Maccario-Mena syndrome

OBSOLETE: Syndromic chorioretinal dystrophy

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: Syndromic macular dystrophy

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

OBSOLETE: Truncal dystonia

OBSOLETE: Unclassified familial retinal dystrophy

OBSOLETE: Unknown leukodystrophy

OBSOLETE: X-linked retinal dysplasia

Retinal macular dystrophy type 2

MCDR2

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Severe early-childhood-onset retinal dystrophy

EOSRD · Early-onset severe retinal dystrophy