Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair, Intention tremor, Ataxia |
OMIM:190200 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin, Athetosis |
OMIM:257800 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor, Premature graying of hair |
ORPHA:66633 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Ataxia |
OMIM:172850 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Tremor, A... |
ORPHA:33445 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Ataxia |
ORPHA:79476 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation |
OMIM:601706 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Tremor, Multiple cafe-au-lait spots, Ataxia, Hypopigmentation of hair |
ORPHA:100 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia |
ORPHA:411515 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Chorea, Generalized dystonia, Ataxia |
ORPHA:70472 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Tremor |
ORPHA:79254 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Iris coloboma, Buphthalmos |
OMIM:212550 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Blue irides |
OMIM:614613 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia |
ORPHA:411511 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Tremor, Ataxia, Hypopigmentation of hair |
ORPHA:98794 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Chediak-Higashi Syndrome |
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Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Tremor, A... |
OMIM:214500 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
Hypohidrotic Ectodermal Dysplasia |
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Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation |
OMIM:618156 |
Oculoauricular Syndrome |
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Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... |
OMIM:612109 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Iris hypopigmentation, Ocular albinism, Ataxia, Hypopigmentation of hair, Athetosis |
ORPHA:2719 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
Chédiak-Higashi Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Somatic sensory dy... |
ORPHA:167 |
Koolen-De Vries Syndrome |
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Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
Hermansky-Pudlak Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... |
ORPHA:79430 |
Sim1-Related Prader-Willi-Like Syndrome |
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Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... |
ORPHA:84064 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmenta... |
ORPHA:98754 |
Magel2-Related Prader-Willi-Like Syndrome |
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Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmenta... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Iris hypopigmentation, Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmenta... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Iris hypopigmentation, Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmenta... |
ORPHA:177901 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... |
ORPHA:177907 |
Prader-Willi Syndrome |
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Impaired temperature sensation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Menkes Disease |
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Woolly hair, Chorea, Sparse hair, Hypopigmentation of hair |
ORPHA:565 |
Vici Syndrome |
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Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism |
OMIM:242840 |
Degcags Syndrome |
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Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
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Abnormal eyelash morphology, Hypopigmentation of hair |
ORPHA:818 |
Cystinosis, Nephropathic |
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Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi... |
OMIM:219800 |
Leukodystrophy, Hypomyelinating, 11 |
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Tremor, Ataxia |
OMIM:616494 |
Treacher-Collins Syndrome |
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Cataract, Iris coloboma |
ORPHA:861 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
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Ataxia |
ORPHA:88637 |
Treacher Collins Syndrome 3 |
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OMIM:248390 |