22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly |
ORPHA:172 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Hepatomegaly |
ORPHA:100025 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
Autoimmune Hypoparathyroidism |
|
Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoca... |
ORPHA:36913 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Corneal opacity, Cognitive impairment, Abnormal aortic valve mor... |
ORPHA:577 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eosinophilia |
OMIM:618523 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Cognitive impairment |
ORPHA:1532 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... |
OMIM:229200 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany |
OMIM:612462 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Hepatomegaly |
ORPHA:79292 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca... |
ORPHA:90362 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly |
OMIM:616651 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Hyperthreoninemia |
OMIM:204000 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration |
OMIM:252650 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Conjunctivitis, Hypocalcemia, Neutropeni... |
ORPHA:47 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Splenomegaly, Aplasia/Hypopla... |
ORPHA:290 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:618815 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia, Developmental cataract |
ORPHA:557003 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... |
OMIM:602450 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Developmental cataract, Hypocalcemia |
OMIM:618440 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess |
OMIM:618282 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... |
OMIM:158310 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia |
ORPHA:281090 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... |
OMIM:245900 |
Gracile Bone Dysplasia |
|
Aniridia, Hypoplastic spleen, Hypocalcemia, Asplenia |
OMIM:602361 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Aspergillosis |
|
Keratitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Cataract, Corneal opacity, Elevated circulating creatine kinase con... |
OMIM:613153 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... |
ORPHA:2306 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Elevated cir... |
ORPHA:36234 |
Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly |
ORPHA:309288 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Mitral valve prolapse, Keratoglobus, Decrea... |
ORPHA:90354 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Attention deficit hypera... |
OMIM:152950 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P... |
ORPHA:3426 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... |
ORPHA:411634 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia |
ORPHA:293173 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:699 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abscess, Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst,... |
ORPHA:400 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Confusion, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic te... |
ORPHA:79444 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly |
ORPHA:61 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop... |
ORPHA:3261 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Cataract, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Confusion, Band keratopathy, Hyperphosphatemia, Conjunctivitis, Hypocalcemi... |
ORPHA:79443 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Hypocalcemia, Cognitive impairment |
OMIM:618476 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Eosinophilia, Keratitis, Cognitive impairment, Attention deficit hyper... |
ORPHA:464 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Rapid neurologic deterioration |
ORPHA:585 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... |
ORPHA:183 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... |
ORPHA:1655 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Abnormal heart morphology |
ORPHA:1867 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Posterior embryotoxon, Tetralogy of Fallot, Hypocalcemia |
OMIM:192430 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Abnormal heart morphology, Hepatosplenomegaly, Viscerome... |
ORPHA:93399 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated card... |
ORPHA:3260 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale, Hypocalcemia |
OMIM:607143 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cognitive impairment |
ORPHA:1794 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia |
ORPHA:746 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Corneal opacity, Elevated circulating creatine kinase concentration, Ventricular se... |
OMIM:301056 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia |
ORPHA:289522 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... |
ORPHA:508533 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia, Cognitive impairm... |
ORPHA:175 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Ventricular septal defect, Thrombocytopenia, Leukocytosi... |
OMIM:274000 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Microcytic anemia |
ORPHA:293967 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... |
ORPHA:31150 |
Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Igg4-Related Pachymeningitis |
|
Mental deterioration, Confusion, Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Incontinentia Pigmenti |
|
Keratitis, Leukocytosis, Cataract, Eosinophilia |
OMIM:308300 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... |
ORPHA:1830 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Zellweger Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Brushfield spots, Cognitive i... |
ORPHA:912 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Rapid neurologic deterioration, Corneal opacity, Hepatomegaly |
OMIM:272200 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Abnormal hea... |
ORPHA:93400 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
22Q11.2 Deletion Syndrome |
|
Cataract, Ventricular septal defect, Abnormal pulmonary valve morphology, Splenomegaly, Tetralogy... |
ORPHA:567 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Cystinosis |
|
Hypokalemia, Corneal opacity, Hypophosphatemia |
ORPHA:213 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Progressive psychomotor deterioration, Increased blood urea nitrogen, Episodic hem... |
ORPHA:251004 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal spleen morphology, Anemia,... |
ORPHA:284 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopeni... |
ORPHA:2785 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalce... |
ORPHA:544482 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Atrial septal defe... |
ORPHA:163979 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Ethylene Glycol Poisoning |
|
Confusion, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... |
ORPHA:466650 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly |
ORPHA:349 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Attention deficit hyperactivity disorder |
ORPHA:401777 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Lymphopenia, Hypocalcemia |
ORPHA:2136 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
OMIM:607015 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Hepatosplenome... |
OMIM:607014 |
Gm1 Gangliosidosis |
|
Corneal opacity, Ventricular septal defect, Splenomegaly, Abnormal heart morphology, Hepatospleno... |
ORPHA:354 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia |
ORPHA:905 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Atrioventricular canal defect, Corneal opacity |
ORPHA:2409 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, ... |
ORPHA:667 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Digeorge Syndrome |
|
Ventricular septal defect, Sclerocornea, Thrombocytopenia, Splenomegaly, Tetralogy of Fallot, Hyp... |
OMIM:188400 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Mucopolysaccharidosis Type 6 |
|
Cognitive impairment, Splenomegaly, Abnormal heart valve morphology, Opacification of the corneal... |
ORPHA:583 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
Coccidioidomycosis |
|
Pericarditis, Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Cognitive impairment |
ORPHA:228123 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Patent foramen ovale |
ORPHA:542306 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Cataract, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increase... |
ORPHA:797 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Developmental cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Anemia |
ORPHA:93325 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Corneal opacity, Cognitive impairment |
ORPHA:582 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocalcemia |
OMIM:300712 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Alagille Syndrome |
|
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morpholog... |
ORPHA:52 |
Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology |
ORPHA:2237 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Gitelman Syndrome |
|
Pericardial effusion, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomag... |
ORPHA:358 |
Costello Syndrome |
|
Keratoconus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
ORPHA:3071 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Cataract, Splenomegaly, Opacification of the corneal stroma, Patent foramen ovale, ... |
OMIM:251290 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Axenfeld anomaly, Opacification of the corneal st... |
OMIM:612582 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... |
ORPHA:425 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Abnormal heart morp... |
OMIM:601499 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Corneal opacity, Dextrocardia, Abnormal heart valve morphology, Asplen... |
ORPHA:99776 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cataract, Brushfield spots, Abnormal heart morphology, Hypoplasia of the thymus, Op... |
OMIM:214110 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449563 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma |
ORPHA:251038 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Progressive neurologic deterioration, Cardiomegaly, Sple... |
ORPHA:581 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... |
OMIM:242900 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Aortic valve stenosis, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Corneal neovascularizatio... |
OMIM:618175 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Subvalvula... |
OMIM:613001 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Pheochromocytoma |
|
Hypercalcemia, Developmental cataract |
OMIM:171300 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy |
OMIM:253220 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Charge Syndrome |
|
Cataract, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic ... |
OMIM:214800 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Abnormal aortic valve morphology,... |
ORPHA:579 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Short attention span, Corneal opacity, Abnormal heart valve morphology, Abnormal pu... |
ORPHA:580 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, End... |
ORPHA:93473 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia |
OMIM:218330 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ventricular septal defect, Ectopia lentis, Hypoplasia of the iris, Abnormal card... |
ORPHA:2092 |
Gomez-Lopez-Hernandez Syndrome |
|
Cognitive impairment, Opacification of the corneal stroma |
OMIM:601853 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Astigmatism, Atrial septal defect... |
ORPHA:369837 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Hypercalcemia, Attention deficit hyperactivity disorder |
ORPHA:476126 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Corneal opacity, Cognitive impairment, Pulmonic stenosis, Abnormal cir... |
ORPHA:488632 |
Alpha-Mannosidosis, Infantile Form |
|
Short attention span, Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly, Ast... |
ORPHA:309282 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... |
ORPHA:906 |
Monosomy 13Q34 |
|
Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circu... |
ORPHA:449395 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, ... |
OMIM:619503 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Megalocornea, Congenital ... |
ORPHA:137675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short attention span, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve ... |
ORPHA:217093 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormal pericardium mor... |
ORPHA:355 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Ventricular hypertrophy, Aortic valve stenosis, Astigmatism |
OMIM:208050 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Microcornea, Transposition of the great arteries, Polysplenia, Opacifi... |
OMIM:201000 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Myocarditis, Dilated cardiomyopathy, Keratoglobus, Abnormal myocardium morphology, H... |
ORPHA:3342 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomega... |
ORPHA:217085 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot |
ORPHA:2059 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Dyggve-Melchior-Clausen Disease |
|
Diminished ability to concentrate, Corneal opacity |
ORPHA:239 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse |
OMIM:259600 |
Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Pulmonary valve atresia, Acute leukemia, Transpositio... |
ORPHA:3474 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, A... |
ORPHA:534 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Corneal opacity, Astigmatism, Attention deficit hyperactivity disorder... |
ORPHA:464311 |
Lathosterolosis |
|
Hepatomegaly, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacifica... |
ORPHA:46059 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Peters anomaly, Atrial septa... |
OMIM:309801 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Hypercalcemia |
ORPHA:29072 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Abnormal cornea morphology, Hypokalemia, Cogn... |
ORPHA:411629 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Hypocalcemia, Attention deficit hyperactivity disorder |
OMIM:620330 |
De Barsy Syndrome |
|
Ventricular septal defect, Cataract, Corneal opacity |
ORPHA:2962 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atrial sept... |
ORPHA:1052 |
Gapo Syndrome |
|
Keratoconus, Shallow anterior chamber, Megalocornea, Hepatomegaly |
OMIM:230740 |
Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia, Anemia |
ORPHA:79396 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral stenosis |
OMIM:253200 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea |
OMIM:300952 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular cataract, Aortic valve st... |
ORPHA:536471 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... |
OMIM:243800 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Cushing Disease |
|
Leukocytosis, Dementia, Decreased eosinophil count, Memory impairment, Lymphopenia |
ORPHA:96253 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormality of the spleen, Splenomegal... |
ORPHA:2072 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Attention deficit hyperactivity disorder... |
ORPHA:636 |
Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hyperalanine... |
OMIM:615273 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Brushfield spots, Conjugated hyperbilirubinemi... |
OMIM:614866 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... |
OMIM:619472 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Atrial s... |
ORPHA:904 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464306 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess |
ORPHA:289176 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Corneal opacity, Iris coloboma, Tricuspid valve prolapse |
ORPHA:2396 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac se... |
ORPHA:2556 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca, Attention deficit hy... |
ORPHA:495875 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Limb Body Wall Complex |
|
Corneal opacity, Ventricular septal defect, Abnormal heart morphology, Lens subluxation, Atrial s... |
ORPHA:2369 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Vipoma |
|
Hepatomegaly, Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma |
OMIM:253000 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Corneal opacity |
OMIM:150250 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Brushfield spots, Opacification of the corneal... |
OMIM:214100 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermo... |
OMIM:600268 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Asplenia, Situs inversus totalis, Microcornea, Aplasia/... |
ORPHA:564 |
Somatostatinoma |
|
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, ... |
ORPHA:171 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
Glucagonoma |
|
Hepatomegaly, Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Splenomegaly, Hypocalcemic seizures, Hepatomegaly |
OMIM:612301 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Double inlet left ventricle, Atrial septal defect, Tetralogy of Fallot |
OMIM:619869 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Elevated circulating 7-dehydrocholesterol conc... |
ORPHA:818 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... |
ORPHA:2273 |
Proboscis Lateralis |
|
Cataract, Ventricular septal defect, Corneal opacity, Microcornea, Iris coloboma |
ORPHA:141099 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Bicuspid pulmonary valve, Microcornea, Abnormal cardiac septum morphol... |
ORPHA:709 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy |
OMIM:608670 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Microcornea, Keratoconus |
OMIM:225400 |
Ablepharon Macrostomia Syndrome |
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Corneal erosion, Corneal opacity |
ORPHA:920 |
Galloway-Mowat Syndrome 1 |
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Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma |
OMIM:251300 |
Microphthalmia, Syndromic 3 |
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Cataract, Ventricular septal defect, Sclerocornea |
OMIM:206900 |
Ppoma |
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Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
Wolf-Hirschhorn Syndrome |
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Abnormal heart valve morphology, Sclerocornea, Abnormal cardiac septum morphology, Atrial septal ... |
ORPHA:280 |
Multiple Endocrine Neoplasia, Type I |
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Hypercalcemia |
OMIM:131100 |
Williams-Beuren Syndrome |
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Short attention span, Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Blue iride... |
OMIM:194050 |
Mosaic Trisomy 1 |
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Ventricular septal defect, Opacification of the corneal stroma |
ORPHA:1692 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Corneal opacity, Thrombocytopenia, Mitral valve prolapse |
ORPHA:666 |
Hutchinson-Gilford Progeria Syndrome |
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Ventricular hypertrophy, Mitral valve calcification, Corneal opacity, Mitral stenosis, Aortic val... |
ORPHA:740 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Cognitive ... |
ORPHA:910 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
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Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Grfoma |
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Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
Autosomal Dominant Cutis Laxa |
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Dilatation of the ventricular cavity, Corneal opacity, Developmental cataract |
ORPHA:90348 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Dementia, Decreased eosinophil count, Memory impairment, Lymphopenia |
ORPHA:99889 |
Sotos Syndrome |
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Cataract, Ventricular septal defect, Hypercalcemia, Abnormal heart morphology, Acute lymphoblasti... |
ORPHA:821 |
Multiple Endocrine Neoplasia Type 1 |
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Short attention span, Confusion, Hypercalcemia |
ORPHA:652 |
Wiedemann-Rautenstrauch Syndrome |
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Cataract, Corneal opacity, Hypertriglyceridemia, Confusion, Congenital malformation of the left h... |
ORPHA:3455 |
Cockayne Syndrome B |
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Hepatomegaly, Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacific... |
OMIM:133540 |
Fraser Syndrome 1 |
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Corneal opacity, Abnormal heart morphology |
OMIM:219000 |
Cockayne Syndrome A |
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Hepatomegaly, Cataract, Splenomegaly, Dementia, Opacification of the corneal stroma |
OMIM:216400 |
Dermatomyositis |
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Myocarditis, Pericarditis, Abnormal eosinophil morphology |
ORPHA:221 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea |
OMIM:600920 |
Yunis-Varon Syndrome |
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Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal de... |
ORPHA:3472 |
Bartsocas-Papas Syndrome 1 |
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Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Patent f... |
OMIM:263650 |
Zollinger-Ellison Syndrome |
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Hypercalcemia |
ORPHA:913 |
Multiple Endocrine Neoplasia Type 4 |
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Hypercalcemia |
ORPHA:276152 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma |
OMIM:601559 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Cataract, Corneal opacity, Ventricular septal defect, Opacification of the corn... |
OMIM:268300 |
Fryns Syndrome |
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Atrial septal defect, Ventricular septal defect, Polysplenia, Opacification of the corneal stroma |
OMIM:229850 |
Hereditary Acrokeratotic Poikiloderma |
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Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Anemia, Mitral valve prolapse |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal heart valve morphology, Abnormal pupil morphology, Mitral valve prolapse, H... |
ORPHA:286 |
Hypermobile Ehlers-Danlos Syndrome |
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Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Atrial septal defect,... |
OMIM:308205 |
Microphthalmia, Syndromic 6 |
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Microcornea, Sclerocornea |
OMIM:607932 |
Yunis-Varon Syndrome |
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Cataract, Ventricular septal defect, Sclerocornea, Cardiomyopathy, Tetralogy of Fallot, Patent fo... |
OMIM:216340 |