Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cognitive impairment, Rod-cone dystrophy, Cataract, Renal insufficiency, Brach... |
OMIM:615995 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Chorioretinal coloboma, Cataract |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Micropenis, Cataract |
OMIM:610156 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
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 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... |
OMIM:614500 |
Morm Syndrome |
|
Retinal dystrophy, Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy |
ORPHA:75858 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Dementia, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Catara... |
OMIM:204200 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Alpha-Thalassemia |
|
Cognitive impairment, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia... |
ORPHA:846 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Optic atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropen... |
OMIM:617303 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Hepatomegaly, Cataract |
OMIM:607906 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... |
OMIM:180080 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy, Nephronophthisis, ... |
ORPHA:3156 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Hematuria, Iris coloboma, Retinal d... |
ORPHA:1473 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... |
ORPHA:231736 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea |
OMIM:616171 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Abnormal lymphatic vessel morphology, Fractures of the long bone... |
ORPHA:464329 |
Norrie Disease |
|
Optic atrophy, Dementia, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of... |
OMIM:310600 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot |
OMIM:183800 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... |
OMIM:127200 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Progressive psychomotor deterioration, Episodic hemolytic anemia, Macular ... |
ORPHA:251004 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Short thumb, Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Postaxial polydactyly, M... |
OMIM:613091 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Morning glory anomaly, Macular hyperpigmen... |
OMIM:120330 |
Vitreoretinochoroidopathy |
|
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... |
OMIM:193220 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... |
OMIM:615986 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Asplenia, Femoral bowing, Enlarged kidney |
OMIM:615415 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
H Syndrome |
|
Psoriasiform dermatitis, Corneal arcus, Hallux valgus, Lymphadenopathy, Hepatosplenomegaly, Micro... |
ORPHA:168569 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa valga, Short phalanx of finger, ... |
OMIM:132450 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Dementia, Cataract, Cognitive impairment |
ORPHA:329314 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Metatarsus adductus, Tibial bowing, Renal malrotation, Retinal coloboma, Bif... |
ORPHA:500095 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninuria, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus |
OMIM:204000 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Hydronephrosis, Tapered finger, Long fingers, Cardiomegaly, T... |
OMIM:608836 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Absent in utero rib ossification, Hammertoe, Webbed neck, Narrow pelvis b... |
OMIM:608022 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... |
OMIM:263200 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Rod-cone dystrophy, Cupped ribs, I... |
ORPHA:168549 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Abnorm... |
ORPHA:290 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Iris coloboma, Short metacarpal, Cataract, Retinopathy, Mental deterioration, Abn... |
ORPHA:2611 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Autosomal Recessive Stickler Syndrome |
|
Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Retina... |
ORPHA:250984 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Hand polydactyly, S... |
OMIM:314390 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... |
OMIM:120200 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Cataract, Splenomegaly |
ORPHA:79238 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Hematuria, Cataract |
OMIM:120433 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Metaphyseal spurs, Reduced proximal interphalangeal joint space, Abnormal... |
ORPHA:166011 |
Maternally-Inherited Diabetes And Deafness |
|
Macular dystrophy, Proteinuria, Cataract, Retinopathy, Glomerulopathy, Abnormal chorioretinal mor... |
ORPHA:225 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Urinary incontinence, Optic atrophy, Cognitive impairment, Cataract |
OMIM:270800 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Short ribs, Abnormal vitreous... |
ORPHA:93296 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormality of retinal pigmentation, Heavy proteinuria, Leukopenia, Nephrotic synd... |
ORPHA:505248 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Cat... |
ORPHA:2310 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Intermediate Uveitis |
|
Psoriasiform dermatitis, Tubulointerstitial nephritis, Vitreous floaters, Macular edema, Optic ne... |
ORPHA:279914 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Arachnodactyly, Cataract, Pigmentary retinopathy |
OMIM:268050 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... |
OMIM:221900 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphys... |
OMIM:614376 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Lipemia retinalis, Decreased glome... |
OMIM:232220 |
Peroxisome Biogenesis Disorder 8B |
|
Retinal dystrophy, Cognitive impairment, Cataract, Optic atrophy |
OMIM:614877 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Polydactyly, Postaxial polydactyly, Sandal gap, Preaxial polydactyly, Micropenis, Sy... |
OMIM:612651 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot, Short proxim... |
OMIM:251190 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Cognitive impairment, Normochromic anemia, Progressive neurologic deterioratio... |
ORPHA:247691 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Stickler Syndrome, Type Ii |
|
Long fingers, Arachnodactyly, Abnormal vitreous humor morphology, Retinal detachment, Cataract |
OMIM:604841 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Stickler Syndrome Type 1 |
|
Abnormality of epiphysis morphology, Abnormal vitreous humor morphology, Retinal detachment, Cata... |
ORPHA:90653 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract |
ORPHA:65 |
Beta-Thalassemia |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Laurence-Moon Syndrome |
|
Iris coloboma, Displacement of the urethral meatus, Finger syndactyly, Cataract, Hand polydactyly... |
ORPHA:2377 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... |
OMIM:260400 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Vacuolated lymphocytes, Bone-m... |
OMIM:256550 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Enlarged kidney |
ORPHA:79128 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Increased mean corpuscular volume, Webbed neck, Persistence of hemoglobin F, R... |
OMIM:610629 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Asplenia, Renal dysplasia, Enlarged kidney, Renal insufficiency, Polycystic kidney ... |
OMIM:208540 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatomegaly, Broad ha... |
ORPHA:585 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormality of epiphysis morphology, Abnormal rib morphology, Cataract, Brachydactyly |
ORPHA:2643 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract |
ORPHA:67048 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Bowing of the long bones, Arachnodactyly, Sandal gap, Cataract, Abnormality of pelvic girdle bone... |
ORPHA:2725 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... |
OMIM:203780 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract, Coloboma |
ORPHA:324737 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Lipemia retinalis, Decreased glomerular filtrat... |
OMIM:232200 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Aminoaciduria,... |
ORPHA:414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Retinal detachment, Corneal opacity, Cataract, Coloboma |
OMIM:613153 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Cataract, Hypoplasia of penis |
ORPHA:1381 |
Trisomy 13 |
|
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Cognitive impairment, Aplasia/Hypoplasi... |
ORPHA:3378 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Metatarsus adductus, Epiphyseal stippling, Brushfield spots, Renal cyst, Splenomega... |
OMIM:614866 |
Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ir... |
ORPHA:959 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... |
ORPHA:449395 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Cataract, Cognitive impairment |
OMIM:615181 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... |
OMIM:604278 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Enlarged kidney |
OMIM:200995 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:609033 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... |
ORPHA:67043 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... |
OMIM:152950 |
Refsum Disease, Classic |
|
Retinal degeneration, Abnormal renal physiology, Cardiomegaly, Rod-cone dystrophy, Cataract, Shor... |
OMIM:266500 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hydronephrosis, Chorioretinal coloboma, Webbed neck, Optic disc coloboma, Iris colob... |
ORPHA:568 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephrobl... |
ORPHA:276280 |
Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Proximal placement of thumb, Iris colobo... |
ORPHA:139471 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Hammertoe, Abnormality of epiphysis morphology, Splenomegaly... |
ORPHA:773 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Broad thumb, Optic disc pallor, Cataract |
ORPHA:3173 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract, Short metacarpal |
ORPHA:627 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract, Cognitive impairment |
ORPHA:3437 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... |
OMIM:612109 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cognitive impairment, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infec... |
ORPHA:731 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... |
OMIM:276700 |
Joubert Syndrome 9 |
|
Retinal dystrophy, Astigmatism, Cataract, Stage 5 chronic kidney disease |
OMIM:612285 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Oculo-Palato-Cerebral Syndrome |
|
Small hand, Retinal detachment, Short foot, Cataract, Remnants of the hyaloid vascular system, Le... |
ORPHA:2714 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hepatomegaly, Nephrocalcinosis, Abnormal myeloid leukocyte morphology, Cogni... |
ORPHA:79259 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... |
OMIM:610377 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Arachnodactyly, Hypochromic anemia, Abnormal renal tubule morphology, Cataract, ... |
ORPHA:2720 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, Optic nerve hypoplasia, Peters anomaly,... |
OMIM:243605 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Developmental cataract, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of ... |
ORPHA:93400 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Metatarsus adductus, Hypoplasia of the thymus, Brushfield spots, Polycystic kidney ... |
OMIM:214110 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Cataract, Splenomegaly |
OMIM:608885 |
Mietens Syndrome |
|
Metatarsus adductus, Sclerocornea, Avascular necrosis of the capital femoral epiphysis, Hypoplasi... |
ORPHA:2557 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Cognitive impairment, Short metacarpal, Cataract, Brachydactyly |
OMIM:612463 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Blackfan-Diamond Anemia |
|
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... |
ORPHA:124 |
Infantile Refsum Disease |
|
Optic atrophy, Hepatomegaly, Abnormality of epiphysis morphology, Rod-cone dystrophy, Cataract |
ORPHA:772 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Renal hypoplasia, Hydronephrosis, Congenital hip dislocation, Cataract, Aminoaciduria |
OMIM:617913 |
Galactosemia I |
|
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Cataract, Galac... |
OMIM:230400 |
Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Broad ischia, Radial deviation of the thumb, Abnormal renal artery ... |
ORPHA:79328 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... |
OMIM:106210 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Kniest Dysplasia |
|
Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossification, Coxa vara, Re... |
OMIM:156550 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Vitreoreti... |
ORPHA:485 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Adducted thumb, Retinal dysplasia, Optic nerve hypoplasia, Peters anomaly, Retinal detachment, Ca... |
OMIM:614643 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, ... |
ORPHA:93399 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphol... |
ORPHA:2715 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Choroideremia, Polycythemia, Congenital megaureter, Cardiomeg... |
ORPHA:116 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... |
OMIM:613179 |
Aniridia And Absent Patella |
|
Aniridia, Aplasia/Hypoplasia of the patella, Cataract |
OMIM:106220 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Ectopia lentis, Hammertoe, Iris coloboma, Flexion contracture of the 4th toe,... |
ORPHA:2712 |
Galactokinase Deficiency |
|
Nuclear cataract, Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly, Catar... |
ORPHA:79237 |
Spondyloocular Syndrome |
|
Webbed neck, Long fingers, Retinal detachment, Cataract, Long toe |
OMIM:605822 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Missing ribs, Iris coloboma, Multicystic kidney dysplasia, ... |
ORPHA:3301 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Isolated Ectopia Lentis |
|
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Choroideremia, Ocular albinism, Abnormality of the urinary system, Anemia, Arachnodactyly, Thin s... |
ORPHA:2719 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Short greater sciatic notch, Broad toe, Short ribs, Splenomegaly, 2-3 finger syndact... |
OMIM:312870 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... |
OMIM:607323 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia |
ORPHA:309288 |
Dent Disease |
|
Tubulointerstitial fibrosis, Metaphyseal irregularity, Non-acidotic proximal tubulopathy, Hyperur... |
ORPHA:1652 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Proximal tubulopathy, Persistence of hemoglobi... |
ORPHA:231222 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Lester's sign, Elongated radius, Keratoconus, Disproportionate prominen... |
OMIM:161200 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia, Micropenis, Cataract, Coloboma, Microcornea |
OMIM:610125 |
Walker-Warburg Syndrome |
|
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... |
ORPHA:899 |
Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of the long bones, Splen... |
ORPHA:231214 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Webbed neck, Radi... |
OMIM:141750 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Methemoglobinemia, Micropenis |
OMIM:250790 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Bardet-Biedl Syndrome 1 |
|
Retinal degeneration, Postaxial polydactyly, Retinal dystrophy, Hyperautofluorescent macular lesi... |
OMIM:209900 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Bowing of the long bones, Persistence of hemoglobin F, Splenomegal... |
ORPHA:231226 |
Weill-Marchesani Syndrome |
|
Short thumb, Cataract, Brachydactyly, Ectopia lentis |
ORPHA:3449 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia, Short toe |
ORPHA:98791 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Cataract, Nephropathy, Renal insufficiency, Brachydactyly |
OMIM:247410 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Proteus-Like Syndrome |
|
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... |
ORPHA:2969 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... |
ORPHA:280921 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Hydronephrosis, Anemia, Abnormal hemoglobin, Recurrent urinary tract infections, C... |
ORPHA:847 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae |
OMIM:615877 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Developmental cataract, Micropenis, Cataract, Microcornea, Overlapping toe |
OMIM:614225 |
Knobloch Syndrome |
|
Ectopia lentis, Vitreoretinopathy, Lymphangioma, Bifid ureter, Macular degeneration, Abnormal vit... |
ORPHA:1571 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Mental deterioration, Cataract, Memory impairment, Pigmentary retinopathy |
ORPHA:79095 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Neurogenic bladder, Nephrocalcinosis |
OMIM:617370 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Enlarged kid... |
OMIM:130650 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Hydronephrosis, Webbed neck, Cognitive impairment, Cyclopia,... |
ORPHA:3380 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... |
OMIM:301040 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Tubulointerstitial nephritis, Choroidal neovascularization, Normochromic anem... |
ORPHA:91500 |
Cockayne Syndrome Type 3 |
|
Progressive neurologic deterioration, Splenomegaly, Unilateral renal agenesis, Optic disc pallor,... |
ORPHA:90324 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Aplasia/Hypoplasia of the patella, Cataract |
ORPHA:1069 |
Chops Syndrome |
|
Horseshoe kidney, Optic atrophy, Cataract, Vesicoureteral reflux, Brachydactyly |
OMIM:616368 |
Werner Syndrome |
|
Retinal degeneration, Cataract |
OMIM:277700 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Meacham Syndrome |
|
Horseshoe kidney, Accessory spleen, Enlarged kidney |
OMIM:608978 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, 3-4 toe syndactyly, Sandal gap, Brachydactyly, Cataract, Broad hallux, Astigmatism... |
OMIM:618727 |
Lathosterolosis |
|
Horseshoe kidney, Hepatomegaly, Anisopoikilocytosis, Toe syndactyly, Thrombocytopenia, Abnormal p... |
ORPHA:46059 |
Neurofibromatosis Type 2 |
|
Abnormality of the optic nerve, Posterior subcapsular cataract, Memory impairment, Cortical catar... |
ORPHA:637 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Corneal erosion, Webbed neck, Renal duplication, Recurrent urinary ... |
ORPHA:33001 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Nephrocalcinosis, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ri... |
OMIM:240300 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Alagille Syndrome 1 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Posterior embryotoxon, Axenfeld anomaly, Re... |
OMIM:118450 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises, Bra... |
ORPHA:168577 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... |
ORPHA:330015 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Short metacarpal... |
ORPHA:508542 |
Cockayne Syndrome |
|
Abnormal renal physiology, Splenomegaly, Unilateral renal agenesis, Retinal arteriolar constricti... |
ORPHA:191 |
Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Keratitis, ... |
OMIM:308300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Renal dysplasia, Optic nerve hypoplasia, Peters an... |
OMIM:236670 |
Meckel Syndrome |
|
Optic atrophy, Ureteral duplication, Asplenia, Sclerocornea, Urethral atresia, Bowing of the long... |
ORPHA:564 |
Leprechaunism |
|
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney |
ORPHA:508 |
Fabry Disease |
|
Optic atrophy, Abnormality of femur morphology, Nephrotic syndrome, Cognitive impairment, Conjunc... |
ORPHA:324 |
Cockayne Syndrome A |
|
Optic atrophy, Dementia, Hepatomegaly, Thymic hormone decreased, Hypoplastic iliac wing, Retinal ... |
OMIM:216400 |
Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... |
ORPHA:649 |
Blau Syndrome |
|
Abnormality of the optic nerve, Retrobulbar optic neuritis, Lymphadenopathy, Clear cell renal cel... |
ORPHA:90340 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Thymoma, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Urinary incontinence, Cataract, Mental deterioration, Memory impairment |
ORPHA:314404 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... |
ORPHA:99867 |
Lathosterolosis |
|
Horseshoe kidney, Toe syndactyly, Anisopoikilocytosis, Increased mean platelet volume, Schistocyt... |
OMIM:607330 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Spondylocarpotarsal Synostosis Syndrome |
|
Tarsal synostosis, Abnormality of retinal pigmentation, Capitate-hamate fusion, Epiphyseal dyspla... |
OMIM:272460 |
Neuroocular Syndrome |
|
Blue irides, Lens coloboma, Hypoplasia of the fovea, Hyperextensibility of the finger joints, Ste... |
OMIM:619539 |
Townes-Brocks Syndrome |
|
Hypospadias, Broad hallux phalanx, Triphalangeal thumb, Iris coloboma, Toe clinodactyly, Ectopic ... |
ORPHA:857 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Lymph node hypoplasia, Conjunctivitis |
OMIM:300755 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Contracture of the proximal interphalangeal joint of the 3rd toe, Developmental cata... |
OMIM:300166 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Webbed neck, Iris coloboma, Finger syndactyly, Cataract, Retinob... |
ORPHA:1587 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... |
ORPHA:67036 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Optic atrophy, Horseshoe kidney, Leukopenia, Urethral stenosis, Phimosis, Anemia, Bo... |
OMIM:305000 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Sclerocornea, Chordee, Iris coloboma, Micropenis, Cataract, Pigmentary retinopathy |
OMIM:309801 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
|
Metatarsus adductus, Absent hallux, Cataract, Microcornea, Absent toe |
OMIM:608279 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Coffin-Lowry Syndrome |
|
Tapered finger, Bifid sternum, Narrow iliac wing, Short metacarpal, Drumstick terminal phalanges,... |
OMIM:303600 |