| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... |
OMIM:619165 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Developmental glaucoma, Developmental cataract, Type II diabetes mell... |
OMIM:147630 |
| Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... |
ORPHA:54 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... |
ORPHA:2885 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Waardenburg Syndrome, Type 3 |
|
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... |
OMIM:148820 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Diabetes mellitus, Blue irides |
OMIM:614613 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
| Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... |
OMIM:614077 |
| Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation |
ORPHA:834 |
| Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Piebaldism, Hypopigmented skin patches,... |
ORPHA:2884 |
| Tonne-Kalscheuer Syndrome |
|
Blue irides |
OMIM:300978 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect |
OMIM:617306 |
| Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Blue irides |
ORPHA:3041 |
| Griscelli Syndrome |
|
Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig... |
ORPHA:381 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... |
ORPHA:894 |
| Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
| Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot... |
ORPHA:912 |
| Noonan Syndrome 13 |
|
Cafe-au-lait spot, Blue irides, Multiple lentigines |
OMIM:619087 |
| Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... |
ORPHA:2719 |
| Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i... |
ORPHA:2969 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... |
ORPHA:79430 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
| Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |
| Angelman Syndrome |
|
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
| Noonan Syndrome 4 |
|
Blue irides |
OMIM:610733 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hyperinsulinemia, Type II diabetes mellitus, Generalized hypopigmentati... |
OMIM:176270 |
| Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign |
ORPHA:2614 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis... |
ORPHA:3205 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
| Koolen-De Vries Syndrome |
|
Fair hair, Cataract, Iris hypopigmentation |
OMIM:610443 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Hermansky-Pudlak Syndrome 4 |
|
Ocular albinism, Albinism |
OMIM:614073 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Albinism |
OMIM:614076 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Melanocytic nevus |
OMIM:101800 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Microcornea, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
| Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis |
OMIM:609136 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... |
ORPHA:636 |
| Neuroocular Syndrome |
|
Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri... |
OMIM:619539 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... |
ORPHA:163746 |
| Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism |
OMIM:617050 |
| Trisomy 8P |
|
Astigmatism, Heterochromia iridis |
ORPHA:264450 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
| Williams Syndrome |
|
Flat cornea, Cataract, Corneal opacity, Blue irides, Aplasia/Hypoplasia of the iris, Type II diab... |
ORPHA:904 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:604292 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:129900 |
| Down Syndrome |
|
Brushfield spots |
OMIM:190685 |
| Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Developmental cataract, Hypopigmen... |
OMIM:242840 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Glucose intolerance, Diabetes mellitus, Blue irides |
OMIM:194050 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... |
ORPHA:744 |
| 1P36 Deletion Syndrome |
|
Cataract, Ocular albinism |
ORPHA:1606 |
