Rare Disease Library

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

Pulmonary interstitial glycogenosis

Infantile cellular interstitial pneumonitis · PIG

ADULT syndrome

Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Ermine phenotype

O'Doherty syndrome · Pigmentary disorder with hearing loss

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Tenosynovial giant cell tumor

TGCT · pigmented villonodular synovitis

Angioma serpiginosum

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

Elastosis perforans serpiginosa

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

Epignathus

Oropharyngeal teratoma

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

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

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

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