Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Tietz Syndrome |
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Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... |
ORPHA:42665 |
Griscelli Syndrome, Type 1 |
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Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
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Albinism, Red hair, Partial albinism |
OMIM:203290 |
Woolly Hair |
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Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
Griscelli Syndrome Type 3 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
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Ataxia, Premature graying of hair |
OMIM:190200 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
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Gait ataxia, Fair hair, Developmental cataract |
OMIM:618808 |
Waardenburg Syndrome, Type 2F |
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Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
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Spastic ataxia, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
Uncombable Hair Syndrome |
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Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi... |
OMIM:601706 |
Waardenburg Syndrome, Type 2B |
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Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Griscelli Syndrome, Type 2 |
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Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:607624 |
Corneal Dystrophy, Endothelial, X-Linked |
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Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Ring Dermoid Of Cornea |
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Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Hidrotic Ectodermal Dysplasia |
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Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Albinism, Oculocutaneous, Type Ib |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Piebald Trait-Neurologic Defects Syndrome |
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Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Waardenburg Syndrome, Type 4B |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia |
OMIM:271310 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin, Athetosis |
OMIM:257800 |
Waardenburg Syndrome, Type 2A |
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Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Cataract-Microcornea Syndrome |
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Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Oculocutaneous Albinism, Type Viii |
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Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
Vogt-Koyanagi-Harada Disease |
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Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... |
ORPHA:3437 |
Waardenburg Syndrome, Type 4A |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Ermine Phenotype |
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Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Woolly Hair Nevus |
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Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
White Forelock With Malformations |
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White forelock, Poliosis |
OMIM:277740 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Oculocutaneous Albinism Type 3 |
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Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Short attention span, Atax... |
ORPHA:411515 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest, Ataxia |
OMIM:172850 |
Lattice Corneal Dystrophy Type I |
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Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Classic Phenylketonuria |
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Mental deterioration, Cataract, Memory impairment, Depression, Hypopigmentation of the skin, Atte... |
ORPHA:79254 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
Griscelli Syndrome Type 1 |
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Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Ataxia |
ORPHA:79476 |
Piebaldism |
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Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Anterior Segment Dysgenesis 8 |
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Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Hypotrichosis 8 |
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Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Gait disturbance, Hyperpigmentati... |
ORPHA:3214 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
Cataract 21, Multiple Types |
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Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Oculocutaneous Albinism Type 4 |
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Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Waardenburg-Shah Syndrome |
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Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Bilateral Acute Depigmentation Of The Iris |
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Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Piebald Trait |
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Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Corneal Endothelial Dystrophy |
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Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
Waardenburg Syndrome Type 1 |
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Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Corn... |
OMIM:602400 |
Ermine Phenotype |
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Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Ataxia-Telangiectasia |
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Premature graying of hair, Gait disturbance, Multiple cafe-au-lait spots, Cognitive impairment, A... |
ORPHA:100 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
Anterior Segment Dysgenesis 7 |
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Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus |
OMIM:229200 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Corneal perforation, Megalocornea, Gait disturbance, Keratoglobus, Sclerocornea, Fla... |
OMIM:614170 |
Oculocutaneous Albinism Type 1 |
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Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
Oculocutaneous Albinism Type 2 |
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Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Cornea Plana 2, Autosomal Recessive |
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Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Methionine Malabsorption Syndrome |
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Blue irides, White hair |
OMIM:250900 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Albinism, Oculocutaneous, Type Ia |
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White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Progressive neurologic deterioration, Hypopigmentation of hair, Inability to walk, Ataxia |
ORPHA:70472 |
Autosomal Dominant Keratitis |
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Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Autosomal Recessive Spastic Paraplegia Type 23 |
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Silver-gray hair, Multiple lentigines, Vitiligo, Spastic gait, Waddling gait |
ORPHA:101003 |
Granular Corneal Dystrophy Type I |
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Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
Oculocutaneous Albinism Type 1B |
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Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Limbal Stem Cell Deficiency |
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Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Corneal Dystrophy, Thiel-Behnke Type |
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Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Hermansky-Pudlak Syndrome 3 |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Hypopigmen... |
ORPHA:98795 |
Anterior Segment Dysgenesis 6 |
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Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Griscelli Syndrome Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Brittle Cornea Syndrome |
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Corneal scarring, Abnormality of hair pigmentation, Gait disturbance, Decreased corneal thickness... |
ORPHA:90354 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Ataxia, Hy... |
ORPHA:411511 |
Oculocutaneous Albinism Type 1A |
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Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Anterior Segment Dysgenesis 2 |
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Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Acquired Hypertrichosis Lanuginosa |
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Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Short atte... |
ORPHA:98794 |
Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Red hair, Fair hair, Blue irides |
OMIM:614613 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypoplasia of the iris, Premature graying of h... |
OMIM:611584 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Irritability |
OMIM:618156 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Corneal opacity, Hypopigmentation of ha... |
ORPHA:2719 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Gait dist... |
OMIM:214500 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... |
OMIM:193500 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... |
ORPHA:79430 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Inability to walk,... |
ORPHA:167 |
Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Cataract, Hypopigmentation of hair |
ORPHA:96169 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Duane Retraction Syndrome |
|
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Anir... |
ORPHA:233 |
Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Attention deficit hyperactivity disorder, Hy... |
ORPHA:177907 |
Vici Syndrome |
|
Cataract, Hypopigmentation of the skin, Ocular albinism, Developmental cataract, Albinism, Hypopi... |
OMIM:242840 |
Syndromic Diarrhea |
|
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... |
ORPHA:84064 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cognitive impairment |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
Prader-Willi Syndrome |
|
Attention deficit hyperactivity disorder, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Attention deficit hyperactivity disorder, Sclerocornea, Abnormal eyelash morphology, Hy... |
ORPHA:818 |
Degcags Syndrome |
|
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... |
OMIM:619488 |
Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |