Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions |
OMIM:122450 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy |
OMIM:607541 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Immunodeficiency 105 |
|
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, Absence of lymph node germinal center, T lympho... |
OMIM:619924 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Bazex Syndrome |
|
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma |
ORPHA:166113 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Immunodeficiency 76 |
|
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneum... |
OMIM:619164 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... |
OMIM:133180 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Edict Syndrome |
|
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract |
OMIM:614303 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... |
ORPHA:2302 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... |
ORPHA:86893 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... |
OMIM:614470 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased B cell count, Bronchiectasis, Lymphadenopathy, Increased proportion... |
OMIM:618982 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Neoplasm, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice |
ORPHA:172 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... |
ORPHA:137599 |
Blue Cone Monochromatism |
|
Corneal dystrophy |
ORPHA:16 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... |
OMIM:300853 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Immunodeficiency 54 |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Ly... |
OMIM:609981 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
Cataract 17, Multiple Types |
|
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea |
OMIM:611544 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Immunodeficiency 64 |
|
Failure to thrive, B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive ... |
OMIM:618534 |
Atopic Keratoconjunctivitis |
|
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca |
ORPHA:163934 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Congenital hepatic... |
ORPHA:79230 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Failure to thrive secondary to recurren... |
OMIM:608971 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Immunodeficiency 36 |
|
Growth delay, B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, Short stature, Recurr... |
OMIM:616005 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Adrenocortical carcinoma, Increased body weight, Weight loss |
ORPHA:1501 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Legius Syndrome |
|
Ovarian neoplasm, Short stature, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multip... |
ORPHA:137605 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... |
ORPHA:545 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurr... |
OMIM:269840 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... |
ORPHA:3261 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Anemia, Hemangioma, Multiple enchondromatosis, Sarcoma, V... |
ORPHA:296 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Growth delay, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acute Lympho... |
OMIM:619824 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Thrombocytopenia, ... |
ORPHA:69077 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... |
ORPHA:221 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium |
OMIM:619339 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis |
OMIM:614195 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... |
OMIM:615234 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... |
OMIM:240500 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract |
OMIM:152950 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... |
OMIM:221900 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Abnormal pulmonary interstitia... |
OMIM:607616 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Weight loss, Lymphad... |
ORPHA:391 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis |
OMIM:615145 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... |
ORPHA:2584 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis |
ORPHA:276608 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Congenital Rubella Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:290 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Aniridia, Developmental glaucoma |
ORPHA:1064 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276575 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... |
ORPHA:137596 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Cataract |
OMIM:613153 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Bronc... |
OMIM:613490 |
Mietens Syndrome |
|
Corneal opacity, Cataract, Microcornea, Sclerocornea |
ORPHA:2557 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi... |
OMIM:308240 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy |
ORPHA:37748 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... |
OMIM:601847 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Caspase 8 Deficiency |
|
Failure to thrive, Splenomegaly, Short stature, Pneumonia, Recurrent sinopulmonary infections, De... |
OMIM:607271 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Conjunctivitis |
OMIM:602562 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo... |
ORPHA:98849 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Cataract |
ORPHA:1867 |
Alpha-Mannosidosis |
|
Corneal opacity, Cataract |
ORPHA:61 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea |
ORPHA:1806 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Lymphoproliferative Syndrome 1 |
|
B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... |
OMIM:613011 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Portal fibrosis, Jaundice, Acholic ... |
OMIM:619868 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Autoimmune hem... |
OMIM:618495 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276580 |
Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Intestinal polyposis, Colon cance... |
ORPHA:2930 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... |
OMIM:613101 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Microphthalmia With Brain And Digit Anomalies |
|
Iris coloboma, Cataract, Microcornea, Sclerocornea |
ORPHA:139471 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Lymphoma, Abnormal lym... |
ORPHA:39041 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, Thrombocytopenia, Pleuritis... |
ORPHA:47612 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cho... |
ORPHA:79301 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Cataract |
ORPHA:496790 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Hepatomegaly, Splenomegaly, Short stature, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Pleuritis, Bilia... |
ORPHA:662 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Abno... |
ORPHA:3162 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Short stature, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... |
OMIM:602450 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Lymph... |
OMIM:614700 |
Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Lymphopenia, Gastrointestinal stroma tumor, Splenomegaly, Autoimmune th... |
ORPHA:1572 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Diffuse... |
ORPHA:276556 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract |
ORPHA:812 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... |
ORPHA:1414 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness |
OMIM:229200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Autoimmune hemo... |
ORPHA:100026 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypereosinophilia, Laryngeal papilloma, Autoimmune... |
OMIM:617388 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Immunodeficiency 97 With Autoinflammation |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Neutropenia in presence of anti-neutr... |
OMIM:619802 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Splenomegaly, Short stature, Thrombocytopenia, Pancytopenia, Anemia, Diffuse a... |
OMIM:616050 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Cataract |
ORPHA:309288 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, S... |
OMIM:224120 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Popliteal pterygium |
ORPHA:1234 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency 32B |
|
Bronchiectasis, Recurrent respiratory infections, Pneumonia, Splenomegaly |
OMIM:226990 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stature, Lymphadenitis, Hepatosplenomegal... |
OMIM:618935 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent upper and lower respiratory tract infections, Failure to thrive,... |
ORPHA:331206 |
Immunodeficiency 55 |
|
Lymphopenia, Short stature, Myelodysplasia, Absent natural killer cells, Neutropenia, Postnatal g... |
OMIM:617827 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Aredyld Syndrome |
|
Hepatomegaly, Splenomegaly, Short stature, Cachexia, Refractory anemia with ringed sideroblasts, ... |
ORPHA:1133 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Microcytic ... |
OMIM:257200 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... |
OMIM:106210 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Werner Syndrome |
|
Slender build, Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal n... |
ORPHA:902 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocyt... |
OMIM:230900 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... |
OMIM:613179 |
Fanconi Anemia, Complementation Group N |
|
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Postnatal growth retardation |
OMIM:610832 |
Oculoauricular Syndrome |
|
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... |
OMIM:612109 |
Juvenile Sialidosis Type 2 |
|
Corneal opacity, Cataract |
ORPHA:93399 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Weight loss, Acute my... |
ORPHA:71493 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Cataract, Aniridia |
OMIM:612469 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Cachexia, Growth delay, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Lymphoma, Splenomegaly |
ORPHA:98375 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea |
ORPHA:284160 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Cataract |
ORPHA:585 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Megalocornea, Developmental glaucoma |
ORPHA:2409 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight ... |
ORPHA:507 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Cataract, Conjunctival hyperemia |
ORPHA:2399 |
Zellweger Syndrome |
|
Corneal opacity, Cataract, Brushfield spots, Posterior embryotoxon |
ORPHA:912 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Cataract, Developmental cataract |
ORPHA:93400 |
Walker-Warburg Syndrome |
|
Corneal opacity, Cataract, Microcornea, Iris coloboma |
ORPHA:899 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... |
OMIM:611490 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural effusion, Azoospermia, A... |
OMIM:235200 |
Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, B-cell lymphoma, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Transaldolase Deficiency |
|
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Small for gestational age,... |
OMIM:606003 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
3Q29 Microduplication Syndrome |
|
Iris coloboma, Sclerocornea, Cataract, Aniridia |
ORPHA:251038 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Jaundice... |
OMIM:211600 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Pneumonia, Lymphadenopathy |
ORPHA:169090 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Astigmatism |
ORPHA:2323 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased basophil count, Pancytopenia, Bronchiectasis, Recurrent sinopulmonary inf... |
OMIM:618394 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
Gaucher Disease, Type I |
|
Multiple myeloma, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, Pancyto... |
OMIM:230800 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepa... |
ORPHA:905 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Astigmatism |
OMIM:301056 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duc... |
OMIM:613027 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly... |
OMIM:278000 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... |
OMIM:266200 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Astigmatism |
ORPHA:2095 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Acromesomelic Dysplasia, Grebe Type |
|
Disproportionate short-limb short stature, Sarcoma |
ORPHA:2098 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism |
ORPHA:2719 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Polycythemia Vera |
|
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Weight loss, Acute leukemia |
ORPHA:729 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... |
ORPHA:264580 |
Stromme Syndrome |
|
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea |
OMIM:243605 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fib... |
OMIM:246200 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma,... |
ORPHA:370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Opacification of the corneal stroma, Cataract |
OMIM:211370 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Ja... |
OMIM:613812 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Short stature, Cirrhosis, Hepatocellula... |
ORPHA:79240 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... |
OMIM:612582 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Gm1 Gangliosidosis |
|
Corneal opacity |
ORPHA:354 |
Kaposiform Lymphangiomatosis |
|
Papilloma, Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Abnormalit... |
ORPHA:464329 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Autoimmune... |
OMIM:616100 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Mucolipidosis Iii Alpha/Beta |
|
Hyperopic astigmatism, Opacification of the corneal stroma |
OMIM:252600 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract |
OMIM:158310 |
Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract |
OMIM:236670 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Splenome... |
OMIM:618042 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Abnormal pulmonary interstitial morphology, Th... |
ORPHA:77259 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sc... |
OMIM:308230 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Sm... |
ORPHA:84064 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Recurrent upper respiratory tract inf... |
OMIM:612541 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic chol... |
OMIM:607765 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Weight lo... |
ORPHA:131 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Neoplasm of the breast, Obesity, Sarcoma, Neoplasm of the thyroid gland |
ORPHA:457059 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma |
ORPHA:2092 |
Hyper-Igd Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly... |
OMIM:260920 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Cataract |
OMIM:251290 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:614866 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:214110 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions |
OMIM:308205 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity |
ORPHA:579 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... |
OMIM:617394 |
Fryns Syndrome |
|