| Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Iris Hypoplasia With Glaucoma |
|
Hypoplasia of the iris, Iris atrophy |
OMIM:308500 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis |
OMIM:608890 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
| Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
| Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris tran... |
OMIM:619165 |
| Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Glaucoma 1, Open Angle, A |
|
Abnormal iris vasculature |
OMIM:137750 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Urocanase Deficiency |
|
Fair hair, Blue irides |
OMIM:276880 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
| Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Late-Onset Retinal Degeneration |
|
Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... |
ORPHA:67042 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... |
OMIM:193510 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... |
OMIM:601706 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Iris h... |
ORPHA:54 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, Abnormal morphology of the chor... |
ORPHA:352731 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair |
ORPHA:79476 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Piebald Trait |
|
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... |
OMIM:172800 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract |
ORPHA:67048 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Irregular hyperpigmentation, Hypopigmented skin patches, Heterochromia ... |
ORPHA:2885 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... |
OMIM:601552 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
| Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... |
ORPHA:999 |
| Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Cataract, Absent anterior chamber of the eye, Iris atrophy |
OMIM:259770 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Pigmentary retinopathy |
OMIM:275400 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
| Phenylketonuria |
|
Cataract, Blue irides, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
| Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Edict Syndrome |
|
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract |
OMIM:614303 |
| Congenital Microcoria |
|
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... |
ORPHA:566 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... |
ORPHA:3214 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
| Waardenburg Syndrome, Type 3 |
|
Blue irides, Partial albinism, Heterochromia iridis, White forelock, Premature graying of hair, H... |
OMIM:148820 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, White... |
OMIM:611584 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy |
OMIM:201180 |
| Hermansky-Pudlak Syndrome 11 |
|
Ocular albinism, Fair hair, Albinism, Iris transillumination defect, Melanocytic nevus |
OMIM:619172 |
| Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Astigmatism, Albinism, Absent skin pigmen... |
OMIM:203100 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Juvenile Xanthogranuloma |
|
Iritis, Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Posterior lenticonus, Microcornea, Chorioretinal coloboma |
ORPHA:231736 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
| Griscelli Syndrome Type 2 |
|
Partial albinism, Iris hypopigmentation, Premature graying of hair, Hypopigmentation of hair |
ORPHA:79477 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Piebaldism, White... |
ORPHA:2884 |
| Hermansky-Pudlak Syndrome 5 |
|
Albinism, Ocular albinism, Iris transillumination defect |
OMIM:614074 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Mental Retardation, Buenos Aires Type |
|
Fair hair, Blue irides |
OMIM:249630 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Frontofacionasal Dysplasia |
|
Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots |
ORPHA:1791 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation |
ORPHA:834 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, Cataract, White hair |
ORPHA:2720 |
| Woolly Hair |
|
Hypopigmentation of hair, Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
| Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
| Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract |
ORPHA:231178 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
| Griscelli Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Premature graying of hair, Hypopigmented skin patches, W... |
ORPHA:381 |
| Attenuated Chédiak-Higashi Syndrome |
|
Ocular albinism, Generalized hypopigmentation |
ORPHA:352723 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, P... |
ORPHA:894 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Blue irides |
ORPHA:3041 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Blue irides, Partial albinism, White eyebrow, White eyelashes, Heterochr... |
OMIM:193500 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Acrofrontofacionasal Dysostosis |
|
Hypopigmented skin patches, Brushfield spots |
ORPHA:1784 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411511 |
| Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
| Proteus-Like Syndrome |
|
Irregular hyperpigmentation, Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia i... |
ORPHA:2969 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:614866 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:214110 |
| Zellweger Syndrome |
|
Corneal opacity, Posterior embryotoxon, Abnormal chorioretinal morphology, Cataract, Brushfield s... |
ORPHA:912 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Corneal opacity, Choroideremia, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation,... |
ORPHA:2719 |
| Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Anisocoria, Cataract |
OMIM:619649 |
| Angelman Syndrome |
|
Hypopigmentation of the skin, Fair hair, Blue irides |
OMIM:105830 |
| Noonan Syndrome 13 |
|
Cafe-au-lait spot, Blue irides, Multiple lentigines |
OMIM:619087 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea |
ORPHA:284160 |
| Waardenburg Syndrome |
|
Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochromia iridis, White forelock,... |
ORPHA:3440 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98794 |
| Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Astigmatism, Iris hypopi... |
ORPHA:79430 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Ectopia pupillae, Axenfeld anomaly, Microcornea, Astigmatism, Iris col... |
ORPHA:261552 |
| Chediak-Higashi Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Iris h... |
OMIM:214500 |
| Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal choroid morphology, Iris coloboma, Corneal dystrophy, Heter... |
ORPHA:3205 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Noonan Syndrome 4 |
|
Blue irides |
OMIM:610733 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
| Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Astigmatism, Iris hypopigmentation, Keratoconus |
ORPHA:72 |
| Triopia |
|
Iris coloboma, Abnormal pupil morphology, Microcornea |
ORPHA:3374 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
| Duane Retraction Syndrome |
|
Hypoplastic iris stroma, Abnormal pupil morphology, Irregular hyperpigmentation, Microcornea, Iri... |
ORPHA:233 |
| Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... |
OMIM:106210 |
| Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
| Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
| Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
| Nail-Patella Syndrome |
|
Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign, Antecubital pterygium |
ORPHA:2614 |
| Hermansky-Pudlak Syndrome 8 |
|
Albinism, Ocular albinism, Astigmatism |
OMIM:614077 |
| Oculoauricular Syndrome |
|
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... |
OMIM:612109 |
| Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Albinism, Ocular albinism |
OMIM:614075 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Pigmentary retinopathy, Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:214100 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Melanocytic nevus, Blue irides |
OMIM:101800 |
| Nail-Patella Syndrome |
|
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium |
OMIM:161200 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Fair hair |
OMIM:610443 |
| Knobloch Syndrome 1 |
|
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Develop... |
OMIM:267750 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... |
OMIM:604367 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98754 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Uveitis, Heterochromia iridis, Leukocoria |
ORPHA:790 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopi... |
OMIM:176270 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... |
ORPHA:177907 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177904 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Iris coloboma, Microcornea, Heterochromia iridis |
ORPHA:2995 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177901 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... |
ORPHA:552 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Phace Syndrome |
|
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma |
ORPHA:42775 |
| Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:398073 |
| Chédiak-Higashi Syndrome |
|
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo... |
ORPHA:167 |
| Megalocornea-Intellectual Disability Syndrome |
|
Abnormal anterior chamber morphology, Megalocornea, Astigmatism, Iridodonesis, Hypoplasia of the ... |
ORPHA:2479 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmentation of hair, Hypopigmented skin patches, Heterochromia ir... |
ORPHA:163746 |
| Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Ocular albinism |
OMIM:617050 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Hypopigmented skin patches |
OMIM:609136 |
| Neurofibromatosis Type 1 |
|
Corneal opacity, Abnormality of retinal pigmentation, Lisch nodules, Generalized hyperpigmentatio... |
ORPHA:636 |
| Neuroocular Syndrome |
|
Blue irides, Stellate iris, Microcornea, Peters anomaly, Iris coloboma, Cataract, Brushfield spot... |
OMIM:619539 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Megalocornea-Mental Retardation Syndrome |
|
Iridodonesis, Megalocornea, Hypoplasia of the iris |
OMIM:249310 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Vici Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Developmental ... |
OMIM:242840 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
ORPHA:280651 |
| Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
| Pierson Syndrome |
|
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... |
OMIM:609049 |
| Hermansky-Pudlak Syndrome 2 |
|
Ocular albinism, Fair hair, Generalized hypopigmentation, Albinism, Aberrant melanosome maturation |
OMIM:608233 |
| Trisomy 8P |
|
Heterochromia iridis, Astigmatism |
ORPHA:264450 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
| Down Syndrome |
|
Brushfield spots |
OMIM:190685 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:604292 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Fair hair, Blue irides, Generalized hypopigmentation |
OMIM:129900 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Hyperpigmentation of the skin |
OMIM:231550 |
| Revesz Syndrome |
|
Fine, reticulate skin pigmentation, Megalocornea, Leukocoria |
OMIM:268130 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Williams Syndrome |
|
Flat cornea, Corneal opacity, Blue irides, Megalocornea, Posterior embryotoxon, Cataract, Aplasia... |
ORPHA:904 |
| Weill-Marchesani Syndrome 2 |
|
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... |
OMIM:608328 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Oculodentodigital Dysplasia |
|
Cataract, Microcornea, Abnormality iris morphology |
ORPHA:2710 |
| Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis |
ORPHA:330015 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Irregular hyperpigmentation, Buphthalmos, Generalized hyperp... |
ORPHA:744 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Panuveitis, Abnormality of retinal pigmentation, Iris nevus, Anterior chamber flare, Anterior uve... |
ORPHA:91500 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
| Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Ectopia lentis |
ORPHA:284979 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Blue irides |
OMIM:194050 |
| Norrie Disease |
|
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... |
ORPHA:649 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... |
OMIM:175780 |
| 1P36 Deletion Syndrome |
|
Cataract, Ocular albinism |
ORPHA:1606 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Corneal opacity, Abnormal pupil morphology, Generalized hypopigmentation, Buphthalmos, Cataract, ... |
ORPHA:534 |
| Vascular Ehlers-Danlos Syndrome |
|
Melanocytic nevus, Keratoconus, Abnormal pupil morphology, Abnormality of skin pigmentation |
ORPHA:286 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Hypermelanotic macule |
OMIM:617920 |
