22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... |
OMIM:607685 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Cognitive impairment, Splenomegaly, Hepatomegaly |
ORPHA:172 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity, Hepatomegaly |
ORPHA:1980 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Keratoconus 9 |
|
Decreased corneal thickness, Keratoconus |
OMIM:617928 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly, Hepatomegaly |
ORPHA:100025 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal heart morphology, Corneal opacity, 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 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splen... |
OMIM:612526 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... |
ORPHA:75566 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Mucolipidosis Type Iii |
|
Cognitive impairment, Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal ... |
ORPHA:577 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eosinophilia |
OMIM:618523 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Au... |
OMIM:617388 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot |
OMIM:601005 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Corneal opacity |
ORPHA:1532 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
OMIM:607115 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Cognitive impairment, Cataract, Hypocalcemia |
OMIM:612462 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Mitral valve prolapse, Abnormal cornea morphology, Decreased corneal thickness, Ker... |
OMIM:229200 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Hypocalcemic seizures, Hypocalc... |
ORPHA:36913 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... |
OMIM:620058 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Hepatomegaly |
ORPHA:79292 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia, Splenomegaly |
OMIM:615387 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2370 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Hy... |
ORPHA:90362 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninemia, Cataract, Keratoconus, Hepatomegaly |
OMIM:204000 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Hypocalcemia, Recurrent cutaneous abscess formation, Thrombocytopenia, Ne... |
ORPHA:47 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Cataract... |
ORPHA:290 |
Mucolipidosis Iv |
|
Progressive neurologic deterioration, Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:618815 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Developmental cataract |
ORPHA:557003 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Oculoskeletodental Syndrome |
|
Developmental cataract, Hypercalcemia, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:618440 |
Omenn Syndrome |
|
Anemia, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:39041 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis |
OMIM:618282 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Cor pulmonale, Opacific... |
OMIM:158310 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly |
ORPHA:2123 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus, Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, N... |
OMIM:245900 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia |
ORPHA:2323 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Aniridia |
OMIM:602361 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Mydriasis, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromi... |
OMIM:259720 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... |
ORPHA:650 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus |
OMIM:204100 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... |
ORPHA:94089 |
Dermatitis, Atopic |
|
Conjunctivitis, Cataract, Keratoconus |
OMIM:603165 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Aspergillosis |
|
Keratitis, Neutropenia, Eosinophilia |
ORPHA:1163 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior chamber, Cataract, Co... |
OMIM:310600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... |
ORPHA:26793 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Corneal opacity, Elevated circulating creatine kinase con... |
OMIM:613153 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:2902 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Aortic valve stenosis, Hypocalcemia, Abno... |
ORPHA:2306 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Transient hypophosphatemia, Developmental cataract, Hypocalcemia |
OMIM:127000 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Brittle Cornea Syndrome |
|
Keratoglobus, Corneal erosion, Corneal scarring, Mitral valve prolapse, Decreased corneal thickne... |
ORPHA:90354 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Hypoplastic left he... |
ORPHA:3426 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cornea morphology,... |
ORPHA:411634 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal stromal edema, Reti... |
ORPHA:699 |
Cystic Echinococcosis |
|
Peritoneal abscess, Splenic cyst, Hyperbilirubinemia, Abnormal heart morphology, Eosinophilia, He... |
ORPHA:400 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus |
ORPHA:65 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Astigmatism, He... |
OMIM:617713 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Cataract, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly |
ORPHA:61 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosinophilia, H... |
ORPHA:199299 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... |
ORPHA:37042 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Scleroderma |
|
Hypereosinophilia, Interstitial cardiac fibrosis, Cognitive impairment, Elevated circulating crea... |
ORPHA:801 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Cognitive impairment, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Corneal opacity |
ORPHA:281090 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Cognitive impairment, Mental deterioration |
OMIM:618476 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale, Hypocalcemia |
OMIM:607143 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Hypoproteinemia, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:235255 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Myocarditis, Eosinophilia |
ORPHA:139402 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism |
OMIM:152950 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Retinitis Pigmentosa |
|
Cataract, Keratoconus |
ORPHA:791 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... |
ORPHA:79444 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Multiple Sulfatase Deficiency |
|
Cataract, Rapid neurologic deterioration, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:585 |
Incontinentia Pigmenti |
|
Cognitive impairment, Cataract, Corneal opacity, Eosinophilia, Keratitis |
ORPHA:464 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... |
ORPHA:183 |
Hereditary Bullous Dystrophy, Macular Type |
|
Abnormal heart morphology, Cataract, Corneal opacity |
ORPHA:1867 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Hepatosplenomegaly, Hypoproteinemia, Hepatomegaly, Hypocalcemia, Splen... |
ORPHA:1655 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Oculomaxillofacial Dysostosis |
|
Cognitive impairment, Corneal opacity |
ORPHA:1794 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Posterior embryotoxon, Ventricular septal defect |
OMIM:192430 |
Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Band keratopathy, H... |
ORPHA:79443 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly, Abnormal heart morpho... |
ORPHA:93399 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Left ventricular hypertrophy, Cardiomyopathy |
ORPHA:746 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Arthrogryposis, Distal, Type 5 |
|
Astigmatism, Keratoglobus, Keratoconus |
OMIM:108145 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Double outlet right ventricle, Ventricular septal defect, Elevated circulating creati... |
OMIM:301056 |
Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia |
ORPHA:289522 |
Cartilage-Hair Hypoplasia |
|
Anemia, Cognitive impairment, Abnormal cardiac septum morphology, Hepatomegaly, Hypocalcemia, Neu... |
ORPHA:175 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Aortic valve calcification, Hepatomegaly, Cardiomega... |
OMIM:231005 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Dilated cardiomyopathy, Dementia, Hepatosplenomegaly, Myocardial eosinophil... |
ORPHA:3260 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Pancytopenia, Hepatosplenomegaly |
ORPHA:309288 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl... |
OMIM:274000 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... |
OMIM:242150 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Microcytic anemia |
ORPHA:293967 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... |
ORPHA:508533 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia |
OMIM:212750 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
Tangier Disease |
|
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opaci... |
ORPHA:31150 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Incontinentia Pigmenti |
|
Leukocytosis, Keratitis, Cataract, Eosinophilia |
OMIM:308300 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Visceromegaly, Hepatosplenomegaly |
OMIM:256540 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Corneal opacity, Hyperlipidemia, Bone marrow hypocellularity, Decreased prop... |
ORPHA:1830 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Zellweger Syndrome |
|
Brushfield spots, Cognitive impairment, Posterior embryotoxon, Ventricular septal defect, Catarac... |
ORPHA:912 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Splenomegaly, Corneal opacity, Hepatomegaly |
OMIM:272200 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Congenital Sialidosis Type 2 |
|
Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opacity, Hepatomegaly, Abnormal hea... |
ORPHA:93400 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration |
OMIM:614025 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia, Progres... |
ORPHA:251004 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Corneal opacity |
ORPHA:213 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly |
OMIM:239200 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... |
ORPHA:284 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Igg4-Related Pachymeningitis |
|
Elevated circulating C-reactive protein concentration, Eosinophilia, Mental deterioration |
ORPHA:449427 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count, Elevated circulating C-reactive protei... |
OMIM:619632 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... |
ORPHA:2785 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thromboc... |
ORPHA:544482 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Posterior embryotoxon, Ventricular septal defect, Truncus arteriosus, A... |
ORPHA:567 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, Thrombocytopenia, Hy... |
ORPHA:163979 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, ... |
OMIM:619991 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... |
OMIM:618052 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Fucosidosis |
|
Cardiomegaly, Corneal opacity, Hepatomegaly |
ORPHA:349 |
Mastocytosis |
|
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea |
OMIM:615145 |
Hurler Syndrome |
|
Cardiomyopathy, Hepatosplenomegaly, Corneal opacity, Hepatomegaly, Progressive neurologic deterio... |
OMIM:607014 |
Hennekam Syndrome |
|
Pericardial effusion, Hypocalcemia, Splenomegaly, Lymphopenia |
ORPHA:2136 |
Gm1 Gangliosidosis |
|
Cognitive impairment, Ventricular septal defect, Hepatosplenomegaly, Corneal opacity, Abnormal he... |
ORPHA:354 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
OMIM:607015 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Wilson Disease |
|
Anemia, Kayser-Fleischer ring, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:905 |
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 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Atrial... |
ORPHA:96125 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hypophosphatemia, Abnormal pulmonary valve morphology, Hepatomegaly, Hypocalcemia, Spleno... |
ORPHA:667 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
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 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Coccidioidomycosis |
|
Cognitive impairment, Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Abscess |
ORPHA:228123 |
Mucopolysaccharidosis Type 6 |
|
Cognitive impairment, Opacification of the corneal stroma, Abnormal heart valve morphology, Splen... |
ORPHA:583 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia |
OMIM:241500 |
Microphthalmia With Brain And Digit Anomalies |
|
Iris coloboma, Cataract, Sclerocornea, Microcornea |
ORPHA:139471 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Microcornea, Iris coloboma, Cataract, Corneal... |
ORPHA:899 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Mucopolysaccharidosis Type 4 |
|
Cognitive impairment, Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
Sarcoidosis |
|
Leukopenia, Abnormal conjunctiva morphology, Anemia, Hemolytic anemia, Keratoconjunctivitis sicca... |
ORPHA:797 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hyperphosphatemia, Hypocalcemic tetany, Developmental cataract, Hypocalcemic seizures |
ORPHA:93325 |
Fabry Disease |
|
Anemia, Abnormal circulating lipid concentration, Cognitive impairment, Abnormal aortic valve mor... |
ORPHA:324 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Ventricular septal defect, Atrial septal defect |
OMIM:300712 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemia, Abnormal heart morphology, Hypocalcemic seizures |
ORPHA:2237 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Gitelman Syndrome |
|
Pericardial effusion, Hypokalemia, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hypomag... |
ORPHA:358 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Hyponatremia |
ORPHA:1764 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Digeorge Syndrome |
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Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Truncus arteriosus, Ventricular septal d... |
OMIM:188400 |
Alagille Syndrome |
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Abnormal pupil morphology, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Corneal... |
ORPHA:52 |
Non-Functioning Paraganglioma |
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Hypercalcemia |
ORPHA:94080 |
Farber Disease |
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Abnormal conjunctiva morphology, Anemia, Opacification of the corneal stroma, Hepatosplenomegaly,... |
ORPHA:333 |
Uremic Pruritus |
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Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Mucopolysaccharidosis Type 7 |
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Splenomegaly, Corneal opacity |
ORPHA:584 |
Costello Syndrome |
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Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Keratoconus, Pulmo... |
ORPHA:3071 |
Thymic Aplasia |
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Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... |
ORPHA:83471 |
Pseudo-Torch Syndrome 1 |
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Patent foramen ovale, Opacification of the corneal stroma, Cataract, Hepatomegaly, Thrombocytopen... |
OMIM:251290 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Mucopolysaccharidosis, Type Vii |
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Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:253220 |
Apolipoprotein A-I Deficiency |
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Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Abnormal circulatin... |
ORPHA:425 |
Hyperparathyroidism 2 With Jaw Tumors |
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Hypercalcemia |
OMIM:145001 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Patent foramen ovale, Keratoconus |
ORPHA:542306 |
8Q21.11 Microdeletion Syndrome |
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Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
Coloboma, Ocular, Autosomal Dominant |
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Peters anomaly, Corneal opacity |
OMIM:120200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Patent foramen ovale, Posterior embryotoxon, Ventricular septal defect, Ocular anterior segment d... |
OMIM:612582 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Brushfield spots, Hypoplasia of the thymus, Elevated circulating long chain fatty acid concentrat... |
OMIM:214110 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Exercise-Induced Malignant Hyperthermia |
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Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... |
ORPHA:466650 |
Mosaic Trisomy 9 |
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Asplenia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Corneal opacity, Abnorma... |
ORPHA:99776 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Oculocerebrocutaneous Syndrome |
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Iris coloboma, Corneal opacity |
ORPHA:1647 |
Axenfeld-Rieger Syndrome, Type 2 |
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Abnormal heart morphology, Anterior chamber synechiae, Opacification of the corneal stroma, Micro... |
OMIM:601499 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Abnormal aortic valve morphology, Dementia, Cataract, Corneal o... |
ORPHA:581 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Anemia, Ocular albinism, Iris hypopigmentation, Cataract, Corneal opacity |
ORPHA:2719 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus |
ORPHA:401777 |
Igg4-Related Ophthalmic Disease |
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Keratitis, Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449563 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Pancytopenia, Lymphopenia, Astigmatism, Thrombocytopenia, Opa... |
OMIM:242900 |
Mucopolysaccharidosis, Type Ivb |
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Aortic valve stenosis, Opacification of the corneal stroma, Corneal opacity, Hepatomegaly |
OMIM:253010 |
Warburg-Cinotti Syndrome |
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Sterile abscess, Limbal stem cell deficiency, Symblepharon, Corneal neovascularization, Decreased... |
OMIM:618175 |
3Q29 Microduplication Syndrome |
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Ventricular septal defect, Aniridia, Iris coloboma, Cataract, Sclerocornea |
ORPHA:251038 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Hypoplasia of the iris, Limbal dermoid, A... |
OMIM:613001 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Blue irides, Hyperphosphatemia |
ORPHA:280651 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Pheochromocytoma |
|
Hypercalcemia, Developmental cataract |
OMIM:171300 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Glucose-Galactose Malabsorption |
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Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Ventricular septal defect, Sclerocornea |
ORPHA:77298 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Charge Syndrome |
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Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Lymphope... |
OMIM:214800 |
Mucopolysaccharidosis Type 1 |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, C... |
ORPHA:579 |
Hurler Syndrome |
|
Endocardial fibroelastosis, Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splen... |
ORPHA:93473 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia |
OMIM:612469 |
Focal Dermal Hypoplasia |
|
Cognitive impairment, Ventricular septal defect, Abnormal cardiac septum morphology, Hypoplasia o... |
ORPHA:2092 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Myocardial steatosis |
OMIM:228100 |
Hepatocellular Carcinoma |
|
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hepatomegal... |
ORPHA:88673 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma, Cognitive impairment |
OMIM:601853 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hypocalcemia, Hepatomegaly |
OMIM:218330 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Cognitive impairment, Ventricular septal defect, Cornea... |
ORPHA:488632 |
Mucopolysaccharidosis Type 2 |
|
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal... |
ORPHA:580 |
Wilson Disease |
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Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Restrictive cardiomyopathy, Atrial septal defect, Astigmatism, Hypercalcemia, Abnormal heart morp... |
ORPHA:369837 |
Wiskott-Aldrich Syndrome |
|
Conjunctivitis, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morpholog... |
ORPHA:906 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Stromme Syndrome |
|
Microcornea, Iris coloboma, Peters anomaly, Cataract, Accessory spleen, Sclerocornea |
OMIM:243605 |
Nail-Patella Syndrome |
|
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia |
OMIM:161200 |
Monosomy 13Q34 |
|
Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Ventricular septal defect, Corneal opacity, Hepatomegaly, Congenital aphakia, Cardi... |
ORPHA:137675 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ventricular septal de... |
OMIM:619503 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters a... |
OMIM:236670 |
Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Anemia, Abnormal heart valve morphol... |
ORPHA:355 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Enlarged kidney, Pericarditis, Elevated circulating C-re... |
ORPHA:449395 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... |
ORPHA:2363 |
Multiple Myeloma |
|
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly |
ORPHA:29073 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Polysplenia, Atrial septal defect, Microcornea, Opacification of the c... |
OMIM:201000 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Hepatosp... |
ORPHA:217085 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... |
ORPHA:95409 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Hepatosp... |
ORPHA:217093 |
Fryns Syndrome |
|
Tetralogy of Fallot, Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2059 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Astigmatism, Keratoconus, Ventricular hypertrophy |
OMIM:208050 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Hypercalcemia |
ORPHA:476126 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Tetralogy of Fallot, Corneal opacity, Acute l... |
ORPHA:3474 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Arterial Tortuosity Syndrome |
|
Keratoglobus, Myocarditis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Keratoconus, Abno... |
ORPHA:3342 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Mitral valve prolapse, Peripheral opacification of the cornea |
OMIM:259600 |
Infantile Nephropathic Cystinosis |
|
Cognitive impairment, Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concent... |
ORPHA:411629 |
Lathosterolosis |
|
Anisopoikilocytosis, Opacification of the corneal stroma, Microcornea, Cataract, Abnormal platele... |
ORPHA:46059 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Iris coloboma, Pete... |
OMIM:309801 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Hepatosplenomegaly, Astigmatism, Cataract, Corneal opacity |
ORPHA:309282 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Corneal opacity, Hypoalbuminemia |
ORPHA:79396 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Astigmatism |
ORPHA:72 |
Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:253200 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, Ventricular septal defect |
ORPHA:2962 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Acute lymphoblastic leukemia, Atrial septal defect, Cataract, Cornea... |
ORPHA:1052 |