Rare Disease Library

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nodular urticaria pigmentosa

OBSOLETE: Eyebrow/eyelashes pigmentation anomaly

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Metabolic disease with pigmentary retinitis

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

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

OBSOLETE: Pigeon-breeder lung disease

OBSOLETE: Bird fancier lung

OBSOLETE: Pigmentation disorder with eye involvement

OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism

OBSOLETE: Pigmented conjunctival lesion

OBSOLETE: Pigmented palpebral tumor

OBSOLETE: Primary pigmented nodular adrenocortical disease

OBSOLETE: PPNAD · OBSOLETE: Primary pigmented nodular adrenal dysplasia

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: Xeroderma pigmentosum complementation group A

OBSOLETE: XPA

OBSOLETE: Xeroderma pigmentosum complementation group B

OBSOLETE: XPB

OBSOLETE: Xeroderma pigmentosum complementation group C

OBSOLETE: XPC

OBSOLETE: Xeroderma pigmentosum complementation group D

OBSOLETE: XPD

OBSOLETE: Xeroderma pigmentosum complementation group E

OBSOLETE: XPE

OBSOLETE: Xeroderma pigmentosum complementation group F

OBSOLETE: XPF

OBSOLETE: Xeroderma pigmentosum complementation group G

OBSOLETE: XPG

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculocerebral hypopigmentation syndrome, Preus type

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

Whyte-Murphy syndrome

Osteoporosis-oculocutaneous hypopigmentation syndrome

Hernández-Fragoso syndrome · OOCHS

Phakomatosis pigmentokeratotica

Phakomatosis pigmentovascularis

Plaque-form urticaria pigmentosa

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

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation

Primary hemophagocytic lymphohistiocytosis without hypopigmentation

Genetic hemophagocytic lymphohistiocytosis without hypopigmentation · Genetic HLH without hypopigmentation

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Punctate acrokeratoderma freckle-like pigmentation

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

Rare disorder with pigmented sclera

Reticular dystrophy of the retinal pigment epithelium

Reticulate acropigmentation of Kitamura

RAK

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Retinal ciliopathy due to mutation in RP1 gene

Retinitis pigmentosa

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

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

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

Retinal dystrophy-juvenile cataract-short stature syndrome

Serpiginous choroiditis

Geographic helicoid peripapillary choroidopathy

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome