Rare Disease Library

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

Brachydactyly-short stature-retinitis pigmentosa syndrome

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

OBSOLETE: Cleft lip-retinopathy syndrome

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

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

OBSOLETE: Metabolic disease with pigmentary retinitis

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

OBSOLETE: Pilotto syndrome

OBSOLETE: Rare non-syndromic cataract

OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

OBSOLETE: Syndromic chorioretinal dystrophy

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: Syndromic lymphedema

OBSOLETE: Syndromic myopia

OBSOLETE: Syndromic vitreoretinopathy

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Retinitis pigmentosa

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion