Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
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 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... |
OMIM:224120 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract |
OMIM:274205 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... |
OMIM:615631 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Brachydactyly |
OMIM:615995 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... |
ORPHA:2310 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract, Duplication involving bones of the feet |
OMIM:246000 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split foot, Cataract, Split hand |
OMIM:183800 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Hip dislocation, Cataract |
OMIM:212540 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... |
ORPHA:2760 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Small hand, Cataract |
OMIM:300261 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot, Short proxim... |
OMIM:251190 |
Aniridia And Absent Patella |
|
Aniridia, Aplasia/Hypoplasia of the patella, Cataract |
OMIM:106220 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormality of epiphysis morphology, Abnormal rib morphology, Cataract, Brachydactyly |
ORPHA:2643 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614876 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Cataract, Coxa valga, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Short thumb, Cataract |
ORPHA:2489 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short lower limbs, Lower limb undergrowth, Cataract, Delayed ossification of carpal bones, Short ... |
OMIM:127200 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... |
ORPHA:2725 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Bowing of the long bones, Splenomegaly, Genu valgum, Persistence o... |
ORPHA:231226 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Cataract, Short palm, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85172 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Galactose Epimerase Deficiency |
|
Cataract, Splenomegaly |
ORPHA:79238 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe |
OMIM:619420 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... |
ORPHA:166011 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Genu valgum |
ORPHA:1381 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Mietens Syndrome |
|
Metatarsus adductus, Sclerocornea, Avascular necrosis of the capital femoral epiphysis, Hypoplasi... |
ORPHA:2557 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Fla... |
ORPHA:168549 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Autosomal Recessive Stickler Syndrome |
|
Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Cataract, Astigmatism |
ORPHA:250984 |
Hypomelanosis Of Ito |
|
Iris coloboma, Radial deviation of finger, Syndactyly, Cataract, Hand polydactyly, Clinodactyly |
OMIM:300337 |
Congenital Rubella Syndrome |
|
Anemia, Abnormality of the metaphysis, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opac... |
ORPHA:290 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Metatropic Dysplasia |
|
Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Halberd-shaped pelvis, Abnor... |
ORPHA:2635 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Dystonia, Juvenile-Onset |
|
Cataract, Hypoplastic scapulae |
OMIM:607371 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Cataract, Short l... |
ORPHA:93296 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Hemochromatosis, Type 4 |
|
Anemia, Cataract |
OMIM:606069 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Iris coloboma |
OMIM:212550 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation, Arachnodactyly |
ORPHA:171844 |
Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
Saul-Wilson Syndrome |
|
Neutropenia, Short metatarsal, Short metacarpal, Short distal phalanx of finger, Cataract, Coxa v... |
OMIM:618150 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Syndactyly, Cataract, Postaxial hand polydactyly, Postaxial f... |
OMIM:615986 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Aplasia/Hypoplasia of the patella, Cataract |
ORPHA:1069 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Triphalangea... |
ORPHA:124 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Stiff Skin Syndrome |
|
Cataract, Camptodactyly |
OMIM:184900 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Cataract, Finger syndactyly |
ORPHA:64754 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Cataract |
OMIM:618805 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Syndactyly, Pancytopenia, Clin... |
ORPHA:2169 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Arachnodactyly, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormal hi... |
ORPHA:2720 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Corneal ulceration, Poikilocytosis... |
ORPHA:79277 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Cataract, Epiphyseal stippling |
OMIM:302950 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Hip dislocation, Developmental cataract, Cataract, Genu valgum |
ORPHA:436174 |
Weill-Marchesani Syndrome |
|
Short thumb, Cataract, Brachydactyly, Ectopia lentis |
ORPHA:3449 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Splenomegaly |
OMIM:608885 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Short metacarpal, Cataract, Brachydactyly |
OMIM:612463 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb, Hip dysplasia, ... |
ORPHA:261250 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Achromatopsia 3 |
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Cataract |
OMIM:262300 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Neutropenia, Short thumb |
OMIM:612562 |
Multiple Synostoses Syndrome 1 |
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Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... |
OMIM:186500 |
Microphthalmia With Brain And Digit Anomalies |
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Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndactyly, Cataract, Postaxial ... |
ORPHA:139471 |
Shwachman-Diamond Syndrome |
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Chronic neutropenia, Macrocytic anemia, Neutropenia, Proximal femoral epiphysiolysis, Normocytic ... |
ORPHA:811 |
Kyrle Disease |
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Posterior subcapsular cataract |
OMIM:149500 |
Isolated Ectopia Lentis |
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Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Cataract 33, Multiple Types |
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Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cataract 40 |
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Nuclear cataract, Sutural cataract |
OMIM:302200 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract |
OMIM:146200 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Nail-Patella Syndrome |
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Patellar aplasia, Hypoplastic radial head, Hypoplasia of first ribs, Lester's sign, Microphakia, ... |
OMIM:161200 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Clubbing of fingers, Anemia, Cataract, Clubbing |
OMIM:175500 |
Morning Glory Disc Anomaly |
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Cataract |
ORPHA:35737 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
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Metatarsus adductus, Absent hallux, Cataract, Microcornea, Absent toe |
OMIM:608279 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Short metacarpal, Cataract, Reticulocytopenia... |
ORPHA:508542 |
Cataract 32, Multiple Types |
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Anterior polar cataract |
OMIM:115650 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises, Bra... |
ORPHA:168577 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Cataract |
OMIM:263100 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Corneal scarring, Anemia, Cataract, Conjunctivitis |
OMIM:226600 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Cataract, Corneal erosion |
OMIM:614878 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Tetraamelia-Multiple Malformations Syndrome |
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Missing ribs, Iris coloboma, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Ca... |
ORPHA:3301 |
Ifap Syndrome 2 |
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Keratoconjunctivitis sicca, Cataract, Keratitis |
OMIM:619016 |
Aniridia 1 |
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Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Alport Syndrome 2, Autosomal Recessive |
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Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
Weill-Marchesani Syndrome 1 |
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Broad metatarsal, Shallow anterior chamber, Ectopia lentis, Microspherophakia, Broad phalanges of... |
OMIM:277600 |
Weill-Marchesani Syndrome 2 |
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Broad metatarsal, Shallow anterior chamber, Flexion contracture of toe, Ectopia lentis, Iridodone... |
OMIM:608328 |
Acro-Renal-Ocular Syndrome |
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Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Aplasi... |
ORPHA:959 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Oculoauricular Syndrome |
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Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Cataract 23, Multiple Types |
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Lamellar cataract |
OMIM:610425 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Cataract, Epiphyseal stippling |
OMIM:118650 |
Autosomal Dominant Optic Atrophy And Cataract |
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Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Abnormal thumb ... |
ORPHA:67036 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Clubbing |
ORPHA:97214 |
Coffin-Lowry Syndrome |
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Tapered finger, Bifid sternum, Narrow iliac wing, Short metacarpal, Drumstick terminal phalanges,... |
OMIM:303600 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
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OMIM:614033 |