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 |
|
Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides |
OMIM:103500 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris tran... |
OMIM:619165 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Hypoglycemia |
ORPHA:67048 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Development... |
OMIM:147630 |
Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Irregular hyperpigmentation |
ORPHA:1214 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... |
ORPHA:352731 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... |
ORPHA:54 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair |
ORPHA:79476 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Piebald Trait-Neurologic Defects Syndrome |
|
Heterochromia iridis, Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin p... |
ORPHA:2885 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
Phenylketonuria |
|
Fair hair, Cataract, Blue irides, Generalized hypopigmentation |
OMIM:261600 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Woolly Hair Nevus |
|
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane |
ORPHA:79414 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypoplasia of the iris, Premature graying of h... |
OMIM:611584 |
Waardenburg Syndrome, Type 3 |
|
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... |
OMIM:148820 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Diabetes mellitus, Blue irides |
OMIM:614613 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
Congenital Microcoria |
|
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... |
ORPHA:566 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation |
ORPHA:1390 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect |
OMIM:619172 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
Hermansky-Pudlak Syndrome 8 |
|
Silver-gray hair, Myopic astigmatism, Ocular albinism, Astigmatism, Iris transillumination defect... |
OMIM:614077 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma |
ORPHA:1791 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation |
ORPHA:834 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Tonne-Kalscheuer Syndrome |
|
Blue irides |
OMIM:300978 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation |
OMIM:617306 |
Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Albinism, Ocular albinism |
OMIM:614074 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation |
ORPHA:2720 |
Griscelli Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... |
ORPHA:381 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Blue irides |
ORPHA:3041 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, White forelock, Heterochromia ... |
ORPHA:894 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis |
ORPHA:158000 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract |
ORPHA:231178 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Corneal arcus |
OMIM:249310 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Partial albinism, White forelock, Heterochromia iridis, White eyebrow,... |
OMIM:193500 |
Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
Zellweger Syndrome |
|
Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho... |
ORPHA:912 |
Noonan Syndrome 13 |
|
Multiple lentigines, Cafe-au-lait spot, Blue irides |
OMIM:619087 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma |
OMIM:214110 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Hypopigmentatio... |
ORPHA:2719 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Limbal de... |
ORPHA:2969 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... |
ORPHA:79430 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98794 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hyp... |
OMIM:106210 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity |
ORPHA:284160 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... |
OMIM:214500 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... |
ORPHA:3440 |
Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism |
ORPHA:72 |
Noonan Syndrome 4 |
|
Blue irides |
OMIM:610733 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign |
ORPHA:2614 |
Sturge-Weber Syndrome |
|
Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Iris coloboma, Co... |
ORPHA:3205 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma |
OMIM:214100 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:98754 |
Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Fair hair |
OMIM:610443 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:98793 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Diabetes mellitus |
ORPHA:177901 |
Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... |
ORPHA:177907 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination defect, A... |
OMIM:614075 |
Duane Retraction Syndrome |
|
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Chorioretinal coloboma, Cen... |
ORPHA:233 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma |
OMIM:614866 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Melanocytic nevus, Blue irides |
OMIM:101800 |
Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia |
OMIM:161200 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Heterochromia iridis, Microcornea, Iris coloboma |
ORPHA:2995 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... |
OMIM:267750 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... |
ORPHA:167 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes |
OMIM:609136 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Peters anomaly, Blue irides, Stellate iris, Lens coloboma, Brushfield spot... |
OMIM:619539 |
Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis |
ORPHA:790 |
Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
Neurofibromatosis Type 1 |
|
Cataract, Inguinal freckling, Axillary freckling, Hypopigmented skin patches, Chorioretinal colob... |
ORPHA:636 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Heterochromia iridis, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of ... |
ORPHA:163746 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Ocular albinism |
OMIM:617050 |
Noonan Syndrome |
|
Melanocytic nevus, Blue irides |
ORPHA:648 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Trisomy 8P |
|
Heterochromia iridis, Astigmatism |
ORPHA:264450 |
Williams Syndrome |
|
Cataract, Megalocornea, Type II diabetes mellitus, Aplasia/Hypoplasia of the iris, Posterior embr... |
ORPHA:904 |
Hermansky-Pudlak Syndrome 2 |
|
Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism |
OMIM:608233 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:604292 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:129900 |
Down Syndrome |
|
Brushfield spots |
OMIM:190685 |
Vici Syndrome |
|
Cataract, Hypopigmentation of the skin, Ocular albinism, Developmental cataract, Albinism, Hypopi... |
OMIM:242840 |
Williams-Beuren Syndrome |
|
Glucose intolerance, Diabetes mellitus, Blue irides, Premature graying of hair |
OMIM:194050 |
Proteus Syndrome |
|
Cataract, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia, Melanocytic... |
ORPHA:744 |
1P36 Deletion Syndrome |
|
Cataract, Ocular albinism |
ORPHA:1606 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
|
OMIM:617709 |
Autosomal Recessive Primary Microcephaly |
|
|
ORPHA:2512 |