Rare Disease Library

OBSOLETE: Pigmentation disorder with eye involvement

OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism

OBSOLETE: Pigmented conjunctival lesion

OBSOLETE: Pigmented palpebral tumor

OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies

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

Pigmentation anomaly of the skin

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

PHID

Pigmented paravenous retinochoroidal atrophy

PPRCA

Plaque-form urticaria pigmentosa

Polyneuropathy associated with IgM monoclonal gammopathy

Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG

Anti-MAG neuropathy · Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein

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

Rare hyperopia and astigmatism

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

Selective IgM deficiency

Selective immunoglobulin M deficiency

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Terminal osseous dysplasia-pigmentary defects syndrome