Rare Disease Library

Granulomatous mastitis

Idiopathic granulomatous mastitis · IGM

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Anonychia with flexural pigmentation

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Bilateral acute depigmentation of the iris

BADI

Brachydactyly-short stature-retinitis pigmentosa syndrome

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

Combined hamartoma of the retina and retinal pigment epithelium

CHR-RPE · Combined hamartoma of the retina and RPE

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

Dermatopathia pigmentosa reticularis

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Familial progressive hyper- and hypopigmentation

FPHH

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

Genetic hyperpigmentation of the skin

Genetic hypopigmentation of the skin

Genetic pigmentation anomaly of the skin

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hyper-IgM syndrome with susceptibility to opportunistic infections

HIGM with susceptibility to opportunistic infections

Hyper-IgM syndrome without susceptibility to opportunistic infections

HIGM without susceptibility to opportunistic infections

Hyperkeratosis-hyperpigmentation syndrome

Hyperpigmentation of the skin

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypopigmentation of the skin

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

Lichen planus pigmentosus

LP pigmentosa · LP pigmentosus

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

RHOA-related mosaic ectodermal dysplasia

Lymphoplasmacytic lymphoma without IgM production

Lymphoplasmacytic lymphoma without Immunoglobulin M production

Martinique crinkled retinal pigment epitheliopathy

MCRPE

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

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: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells

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