| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... |
OMIM:619313 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Immunodeficiency 48 |
|
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... |
OMIM:269840 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... |
OMIM:611926 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cataract, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... |
OMIM:204200 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Depression, Retinal degeneration, Irritability, Vacuolated l... |
OMIM:256730 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Niemann-Pick Disease, Type B |
|
Abnormal macular morphology, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hyp... |
OMIM:607616 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Optic atrophy, Decreased proportion of CD4-positive T cells |
ORPHA:477814 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen... |
OMIM:608233 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... |
OMIM:300853 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:604250 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Trimethylaminuria |
|
Anemia, Depression, Splenomegaly, Neutropenia |
OMIM:602079 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis... |
ORPHA:79312 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... |
OMIM:616959 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... |
OMIM:620632 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hep... |
OMIM:603552 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Optic atrophy, Splenomegaly |
OMIM:611721 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... |
OMIM:600802 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Mantle Cell Lymphoma |
|
Anorexia, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper... |
OMIM:243700 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... |
ORPHA:543 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Elevated circulating creatinine concentration, Papilledema, Hyperkalemia |
OMIM:620366 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... |
ORPHA:179 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancr... |
ORPHA:27 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy |
OMIM:602271 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating... |
OMIM:613313 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... |
ORPHA:848 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... |
OMIM:615607 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... |
OMIM:143200 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... |
OMIM:620282 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... |
ORPHA:331206 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:620210 |
| Neuraminidase Deficiency |
|
Cataract, Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Cardiomegaly, Hep... |
OMIM:256550 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocyto... |
ORPHA:49827 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Papilledema, Lymphadenopathy, Elevated ci... |
OMIM:607115 |
| Congenital Rubella Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Vent... |
ORPHA:290 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen |
OMIM:617053 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
| Immunodeficiency 70 |
|
Retinal vasculitis, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... |
OMIM:620430 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Cherry red spot of the macula |
ORPHA:796 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ... |
OMIM:249270 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Throm... |
OMIM:209950 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia |
OMIM:609153 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Anorexia, Decreased proportion of ... |
OMIM:619381 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Conju... |
OMIM:240500 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... |
ORPHA:891 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... |
ORPHA:411527 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Retinopathy, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal ly... |
ORPHA:158029 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... |
ORPHA:277 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Extremely elevated creatine kinase, Leukocytosis, Splenomegaly, Elevated circulati... |
OMIM:615673 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatome... |
ORPHA:507 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbiliru... |
OMIM:269920 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl... |
ORPHA:79124 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Babesiosis |
|
Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hepatomegaly, Jaundice, Hemolyt... |
ORPHA:108 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome... |
OMIM:608885 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Keratitis, Cutaneous abscess, Lymphadenitis, Decrea... |
ORPHA:331235 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... |
OMIM:300635 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
| Cone-Rod Dystrophy 16 |
|
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... |
OMIM:614500 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Hepato... |
OMIM:606069 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Irritability, Hemolytic anemia |
OMIM:612126 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Abnorma... |
OMIM:598500 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Eye poking, ... |
OMIM:204100 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Farber Lipogranulomatosis |
|
Cherry red spot of the macula, Splenomegaly, Irritability, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe... |
ORPHA:101096 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Chorioretinitis, Hepatomegaly, Thromb... |
ORPHA:294 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
OMIM:615010 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Optic disc ... |
OMIM:611490 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen... |
ORPHA:3226 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopa... |
ORPHA:79477 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Jaundice, Splenomegaly |
ORPHA:79238 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Depression, Violent behavior, Emotional lability, Retinopathy, Irritability, Compu... |
ORPHA:216873 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... |
OMIM:620010 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... |
ORPHA:93476 |
| Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... |
OMIM:611040 |
| Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count |
OMIM:612782 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Cinca Syndrome |
|
Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy |
OMIM:614979 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Mevalonic Aciduria |
|
Cataract, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenomegaly, Attenuation of retinal ... |
OMIM:610377 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice |
ORPHA:172 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618986 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:603909 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Pancreatitis, Ly... |
ORPHA:549 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Niemann-Pick Disease, Type A |
|
Cherry red spot of the macula, Microcytic anemia, Sea-blue histiocytosis, Ascites, Splenomegaly, ... |
OMIM:257200 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Aggressive behavior, Elevated c... |
OMIM:300438 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Retinitis Pigmentosa 71 |
|
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... |
OMIM:616394 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Macular edema, Abnormality of the h... |
ORPHA:247691 |
| Eales Disease |
|
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... |
ORPHA:40923 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... |
OMIM:608553 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concent... |
ORPHA:381 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Depression, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor |
ORPHA:309288 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly |
ORPHA:397596 |
| Sialidosis Type 2 |
|
Abnormal macular morphology, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... |
OMIM:226990 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... |
OMIM:251270 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Anorexia, Decreased mean corpuscular volume, He... |
OMIM:611590 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Roifman Syndrome |
|
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... |
OMIM:616651 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
| Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatic fibrosis, Optic atrophy, Hepatosplenomegaly |
ORPHA:466794 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... |
OMIM:616828 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cataract, Visceromegaly, Cherry red spot of the macula, Abnormal heart morphology,... |
ORPHA:93399 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Cardiomyopathy, Sideroblastic anemia, Megaloblas... |
OMIM:222300 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
OMIM:604290 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... |
ORPHA:824 |
| Immunodeficiency 22 |
|
Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Retinal vasculitis, Thromb... |
OMIM:615758 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology, Anemia, Facial palsy |
ORPHA:53 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentr... |
ORPHA:100924 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
| Cohen Syndrome |
|
Optic atrophy, Leukopenia, Bull's eye maculopathy, Mitral valve prolapse, Chorioretinal dystrophy... |
OMIM:216550 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Microvesicu... |
ORPHA:275761 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... |
OMIM:604393 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Gaucher Disease, Type Iii |
|
Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Ascites, Pancytopenia, Hepatosplenomegaly... |
OMIM:259720 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie... |
ORPHA:90362 |
| Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Anorexia, Hepatomegaly, Elevated circ... |
ORPHA:77259 |
| Sarcosinemia |
|
Optic atrophy, Hypertrophic cardiomyopathy, Emotional lability, Pulmonic stenosis, Hypersarcosinemia |
ORPHA:3129 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula |
OMIM:230650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hyperammonemia, Irritability, Neutropenia, Dysphagia |
OMIM:618253 |
| Joubert Syndrome 33 |
|
Splenomegaly, Cone/cone-rod dystrophy |
OMIM:617767 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... |
ORPHA:1473 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Emotional lability, Orthostatic hypotension ... |
ORPHA:179494 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... |
OMIM:193220 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
| Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
| Vici Syndrome |
|
Cataract, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, Ocular albinism... |
OMIM:242840 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, E... |
OMIM:615234 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru... |
OMIM:619046 |
| Optic Atrophy 11 |
|
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Spleno... |
OMIM:617302 |
| Tangier Disease |
|
Peripheral demyelination, Facial diplegia, Splenomegaly, Hypertriglyceridemia, Elevated circulati... |
OMIM:205400 |
| Cach Syndrome |
|
Optic atrophy, Cataract, Hepatosplenomegaly, Irritability, Optic neuritis, Pancreatitis, Dysphagi... |
ORPHA:135 |
| Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis |
ORPHA:3318 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... |
OMIM:300476 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... |
OMIM:615122 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy, Bone marrow hypocellularity, Hype... |
OMIM:617303 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Anemia, Hyperkalemia, Astigmatism |
ORPHA:97362 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... |
OMIM:230500 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,... |
OMIM:230800 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Cataract, Cherry red spot of the macula, Ascites, Abnormal heart morphology, Hepat... |
ORPHA:93400 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Depression, Sensory axonal neuropathy, Cardiomyopathy, Elevated circulating creati... |
ORPHA:254886 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Optic atrophy, Abnormal macular morphology, Retinopathy, Splenomegaly, Elevated circulating creat... |
OMIM:608799 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Facial paralysis, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thromboc... |
OMIM:259700 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten... |
OMIM:152950 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... |
ORPHA:699 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Decreased proportion of CD4-pos... |
ORPHA:66628 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Cholestasis, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase conc... |
OMIM:614576 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, He... |
OMIM:615688 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Decreased nerve conduction velocity, Le... |
OMIM:214500 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Depression, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptogl... |
OMIM:300842 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Cardiomyopathy, Aggressive behavior, Rod-cone dystrophy, Thrombocytopenia, Severe ... |
OMIM:617710 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Srd5A3-Cdg |
|
Optic atrophy, Cataract, Optic disc hypoplasia, Microcytic anemia, Rod-cone dystrophy |
ORPHA:324737 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane... |
OMIM:616084 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... |
OMIM:214900 |
| Usher Syndrome, Type 1M |
|
Optic disc pallor, Left ventricular hypertrophy, Drusen |
OMIM:618632 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| 3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Dilated cardiomyopathy, Normochromic microcytic anemia, Microvesicular hepatic ste... |
OMIM:610198 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... |
OMIM:618892 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Abnormality of the liver, Tetralogy of ... |
ORPHA:84064 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... |
OMIM:616100 |
| Immunodeficiency 87 And Autoimmunity |
|
Biventricular hypertrophy, Dilated cardiomyopathy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ra... |
OMIM:619573 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... |
ORPHA:398124 |
| Alg8-Cdg |
|
Optic atrophy, Cataract, Ascites, Retinopathy, Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,... |
OMIM:617591 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Splenomegaly, Abnormality of periph... |
ORPHA:585 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Wilson Disease |
|
Depression, Hepatitis, Kayser-Fleischer ring, Acute hepatitis, Hepatic steatosis, Splenomegaly, H... |
ORPHA:905 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... |
ORPHA:231226 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... |
OMIM:613490 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... |
OMIM:259710 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym... |
OMIM:612783 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... |
ORPHA:829 |
| Krabbe Disease |
|
Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia, Decreased nerve conduction ... |
OMIM:245200 |
| Infantile Refsum Disease |
|
Optic atrophy, Cataract, Cardiomyopathy, Elevated circulating phytanic acid concentration, Rod-co... |
ORPHA:772 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Splenomegaly, Retinal degeneration, Ventricular septal defect, Hep... |
OMIM:615630 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia |
OMIM:175500 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... |
ORPHA:457077 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyperuricemia, Hyponatremia, Salt craving, Orthostatic hypotension, Anorexia, ... |
ORPHA:95409 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Cataract, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysph... |
OMIM:617913 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Congenital hepatic fibrosis... |
ORPHA:79230 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pure red cell aplasia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic ane... |
OMIM:613179 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Myocardi... |
ORPHA:544482 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Increased circulating creatine kinase MB isoform, Hyperkalemia |
OMIM:617595 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... |
ORPHA:231214 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... |
ORPHA:31824 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Hyperactivity, Rod-cone dystrophy, Hepatomegaly, Asymmetric septal hypertrophy, Dys... |
OMIM:252930 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Optic d... |
OMIM:619170 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Decre... |
ORPHA:167 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... |
OMIM:606003 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Rod-cone dystroph... |
OMIM:260920 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Refsum Disease |
|
Cataract, Cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Splenomegaly |
ORPHA:773 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis, Enlarged kidney |
OMIM:602088 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Optic atrophy, Dysphagia, Cataract |
OMIM:612379 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Macular degeneration, Abnormal pancreas morphology, Inc... |
ORPHA:48818 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Optic atrophy, Cataract, Macrocytic anemia, Dysphagia, Temporal optic disc pallor, Morning glory ... |
ORPHA:98673 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:300298 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Conjunctival icterus, Hepatic fibrosis, Biliary cirrhos... |
ORPHA:53035 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Dysphagia |
OMIM:230600 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hepatomegaly, Hypercholesterolemia... |
OMIM:207750 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy, Corneal opacity, Hepatome... |
ORPHA:79292 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Optic atrophy, Hepatic fibrosis, Acute pancreatitis, Ascites, Hepatosplenomegaly... |
OMIM:619487 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level |
OMIM:610600 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatocellular necrosis, Increased ci... |
OMIM:231100 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ... |
ORPHA:1414 |
| Cystinosis |
|
Polydipsia, Portal hypertension, Retinopathy, Hypokalemia, Hypophosphatemia, Corneal opacity, Mot... |
ORPHA:213 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Muckle-Wells Syndrome |
|
Optic atrophy, Splenomegaly, Hepatomegaly, Anemia, Conjunctivitis |
ORPHA:575 |
| Addison Disease |
|
Normocytic anemia, Thymoma, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia... |
ORPHA:85138 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia... |
OMIM:251900 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Cataract |
OMIM:613730 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, ... |
ORPHA:465508 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... |
OMIM:618195 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Pigmentary retinopathy, Depression, Bull's eye maculopathy, Acanthocytosis, Emotio... |
ORPHA:157850 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Leukocytosi... |
OMIM:615895 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Optic atrophy, Bone marrow hypocellularity, Abnormal heart morphology, Hypertrop... |
ORPHA:505248 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Papilledema, Developmental cataract, Transient hypophosphatemia,... |
OMIM:127000 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly, Jaundice, Opacifica... |
OMIM:251290 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Hepatomegaly, Motor stereotypy, Abnormal heart morphology, Decr... |
ORPHA:580 |
| Isolated Atp Synthase Deficiency |
|
Optic atrophy, Cataract, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperammonemia, Hyp... |
ORPHA:254913 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level |
ORPHA:556037 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Cardiomyopathy, Leukocytosis, Hypocalcemia, Splenomegaly, Irritability, Hypop... |
ORPHA:289157 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... |
ORPHA:340 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemolytic anemia, Punctat... |
OMIM:617388 |
| Gaucher Disease |
|
Aortic valve calcification, Cherry red spot of the macula, Pancytopenia, Cirrhosis, Hepatomegaly,... |
ORPHA:355 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level |
ORPHA:556030 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro... |
OMIM:612541 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
| Pediatric-Onset Graves Disease |
|
Keratitis, Polydipsia, Splenomegaly, Emotional lability, Irritability, Polyphagia, Hyperactivity,... |
ORPHA:525731 |
| Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... |
OMIM:180105 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Optic neuritis, Lymphadenopathy, Neutropenia in presen... |
ORPHA:436159 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... |
ORPHA:540 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemi... |
OMIM:614702 |
| Gm1 Gangliosidosis |
|
Optic atrophy, Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Hepatosp... |
ORPHA:354 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Depression, Hypocholesterolemia, Abnormal erythrocyte morp... |
ORPHA:96180 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... |
OMIM:613581 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... |
OMIM:194380 |
| Norrie Disease |
|
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... |
OMIM:310600 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia, Ocular albinism |
OMIM:617050 |
| Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti... |
ORPHA:2969 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Brucellosis |
|
Hypersplenism, Anorexia, Hepatomegaly, Elevated circulating C-reactive protein concentration, End... |
ORPHA:1304 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... |
ORPHA:364055 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ... |
OMIM:613280 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular... |
ORPHA:66634 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p... |
OMIM:614700 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Situs inversus totalis, Rod-cone dystrophy, Macular atrophy, Opti... |
OMIM:615434 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... |
ORPHA:85414 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Cutaneous abs... |
ORPHA:101330 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevated circulating ... |
ORPHA:79282 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Keratoconjunctivitis sicca, Lymphadenopath... |
ORPHA:809 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple... |
ORPHA:565612 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Reduced circulating cortisol-binding globulin concentration |
OMIM:611489 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| 8P11.2 Deletion Syndrome |
|
Microcornea, Hemolytic anemia, Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal ... |
ORPHA:251066 |
| Glycogen Storage Disease Ib |
|
Hyperlipidemia, Splenomegaly, Hyperuricemia, Lipemia retinalis, Pancreatitis, Neutropenia, Pancre... |
OMIM:232220 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex... |
OMIM:300972 |
| Whipple Disease |
|
Depression, Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Anemia, Myocarditis, Hepatomegaly, ... |
ORPHA:3452 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... |
OMIM:612572 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Abnormal retinal vascular morp... |
ORPHA:33226 |
| Congenital Syphilis |
|
Optic atrophy, Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Chorioretin... |
ORPHA:499009 |
| Multiple Sulfatase Deficiency |
|
Peripheral demyelination, Splenomegaly, Retinal degeneration, Corneal opacity, Hepatomegaly |
OMIM:272200 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... |
ORPHA:99826 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Mucopolysaccharidosis Type 1 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Retinopathy, Splenom... |
ORPHA:579 |
| Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... |
OMIM:602772 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypertrophic cardiomyopathy, Anorexia |
ORPHA:361 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Elevated circulating creatine kinase concentration, Neutropenia, Conjun... |
OMIM:604173 |
| Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of retinal pigmentation, Splenom... |
OMIM:309900 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... |
OMIM:222470 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hyperalaninemia, Retinal degeneration |
OMIM:616896 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Rod-cone dystrophy, Hepatomegaly, Dysphagia, Cataract, Hyperact... |
ORPHA:581 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Optic atrophy, Dysphagia |
OMIM:619708 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... |
OMIM:601847 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hepatitis, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased ... |
ORPHA:37042 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia, Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosens... |
ORPHA:1187 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Cholestasis, Elevated circulating phytanic acid ... |
OMIM:614866 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato... |
OMIM:613471 |
| Incontinentia Pigmenti |
|
Optic atrophy, Cataract, Keratitis, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proli... |
OMIM:308300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Depression, Abnormal circulating lipid concentration, Cherry red spot of the macu... |
ORPHA:77293 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Anemia, Diffuse... |
ORPHA:436271 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia... |
ORPHA:1572 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... |
OMIM:619418 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Bone marrow hypocellularity, Cranial nerve compression, Pancytopenia, Leukopenia, ... |
ORPHA:2785 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... |
OMIM:616028 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Motor stereotypy, Prolonged ne... |
OMIM:607625 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Absent brainstem a... |
ORPHA:79330 |
| Hurler Syndrome |
|
Abnormal nerve conduction velocity, Depression, Cardiomyopathy, Abnormal heart valve morphology, ... |
ORPHA:93473 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Splenomegaly, Hep... |
ORPHA:50918 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Cohen Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Mitral valve prolapse, Ventricular septal def... |
ORPHA:193 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Splenomegaly, Irritability, Decreased serum zinc, Hepatomegaly |
OMIM:201100 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Optic nerve compression, Splenomegaly, Hepatomegaly, Anemia, Hypocalcemic seizures |
OMIM:612301 |
| American Trypanosomiasis |
|
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Lymphadenopathy, Myocarditis, Hepatomegaly |
ORPHA:3386 |
| Majeed Syndrome |
|
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... |
ORPHA:77297 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Papilledema, Lymphadenopathy, Thrombocytosis,... |
ORPHA:2905 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c... |
OMIM:620376 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Abnormal circulating creat... |
ORPHA:899 |
| Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... |
OMIM:616469 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Abnormal abdomen morphology, Intrahepatic bile duct dilatation, Portal hyperten... |
OMIM:216360 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... |
OMIM:308230 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly,... |
OMIM:602782 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Decreased circulating carnitine concentration, Corneal crystals, Retinal ... |
OMIM:219800 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Peritonitis, Elevated circulating amyloid A concentrati... |
OMIM:249100 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, M... |
OMIM:620565 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia |
OMIM:604278 |
| Q Fever |
|
Granuloma, Hepatitis, Abnormal heart valve morphology, Anorexia, Hepatosplenomegaly, Abnormality ... |
ORPHA:781 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Developmental cataract, Anemia, Retinal calc... |
ORPHA:93325 |
| Biotinidase Deficiency |
|
Optic atrophy, Splenomegaly, Hyperammonemia, Hepatomegaly, Conjunctivitis |
OMIM:253260 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... |
OMIM:251880 |
| Fabry Disease |
|
Optic atrophy, Cataract, Depression, Abnormal circulating lipid concentration, Hypertrophic cardi... |
ORPHA:324 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
| Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... |
OMIM:600132 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach... |
OMIM:607765 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... |
OMIM:613810 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concen... |
OMIM:612852 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Anemia, Increas... |
OMIM:220110 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Leptospirosis |
|
Hepatitis, Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Hepatomegaly, Optic... |
ORPHA:509 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia, Abnormal optic disc morphology, Congenital stationary night blindness, Decreas... |
ORPHA:293967 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Hypertrophic cardiomyopathy, Leukopenia, Optic nerve compression, Splenomegaly, He... |
ORPHA:1328 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:235555 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c... |
ORPHA:139507 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ... |
ORPHA:169090 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Addictive alcohol use, Euphoria, Facial palsy, Hyperkalemia |
ORPHA:31826 |
| Fucosidosis |
|
Cherry red spot of the macula, Tortuosity of conjunctival vessels, Splenomegaly, Cardiomegaly, He... |
OMIM:230000 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia |
OMIM:239200 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:613027 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... |
ORPHA:98977 |
| Chops Syndrome |
|
Optic atrophy, Cataract, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Anomalous... |
OMIM:616368 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Cataract, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati... |
OMIM:253800 |
| Aniridia 2 |
|
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Jaundice, Prol... |
OMIM:615512 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Left ventri... |
ORPHA:320 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:620152 |
| Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... |
OMIM:613983 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Macular edema, Polycythemia, Cardiomyopathy, Hypertensive retinopat... |
ORPHA:892 |
| Autoimmune Hepatitis |
|
Depression, Viral hepatitis, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing cholang... |
ORPHA:2137 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Microsporidiosis |
|
Brain abscess, Keratitis, Lymphadenitis, Hepatitis, Abnormality of the spleen, Decreased proporti... |
ORPHA:2552 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Elevate... |
ORPHA:32960 |
| Hennekam Syndrome |
|
Ascites, Lymphopenia, Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Pe... |
ORPHA:2136 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:614162 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Cataract, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pig... |
ORPHA:2526 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale... |
OMIM:619377 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... |
OMIM:208540 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level |
ORPHA:427 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Abnormality of peripheral nerve conduction, Hepa... |
ORPHA:90321 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
| Scheie Syndrome |
|
Hepatomegaly, Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... |
OMIM:300578 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Ventricu... |
OMIM:301068 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hyperammonemia, Hepatome... |
OMIM:618641 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro... |
ORPHA:288 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,... |
OMIM:613812 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Situs inversus totalis, Hepatic cysts, Hypokalemia... |
OMIM:613095 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Hyperammonemia, Splen... |
OMIM:222700 |
| Bloom Syndrome |
|
Recurrent tonsillitis, Abscess, Decreased proportion of CD4-positive T cells, Retinopathy, Abnorm... |
ORPHA:125 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperkalemia, Hyperphosphatemia, Elevated creatine kin... |
ORPHA:423 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Retinal hemorrhage, Emotional lability, Anorexia, Hepatomegaly, Jaundice, Neutrophi... |
ORPHA:99827 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Cardiomyopathy, Splenomegaly, Abnormality of peripheral nerve... |
ORPHA:90324 |
| Fumarase Deficiency |
|
Optic atrophy, Intrahepatic cholestasis, Conjunctival icterus, Polycythemia, Ascites, Hyperbiliru... |
OMIM:606812 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal pulm... |
ORPHA:217085 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Corneal perforation, Biliary cirrhosis, Depression, Chronic active hepatitis, ... |
ORPHA:289390 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Chronic Granulomatous Disease |
|
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess |
ORPHA:379 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E... |
OMIM:611881 |
| Jacobsen Syndrome |
|
Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Ventricular septal defect, ... |
OMIM:147791 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal pulm... |
ORPHA:217093 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| Retinitis Pigmentosa |
|
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... |
ORPHA:791 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233710 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Leukocytosis, Hepatic steatosis, Azotemia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormal te... |
ORPHA:2072 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Hypotriglyceridemia, Nodular regenerative hyperplasia of l... |
ORPHA:404454 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Macular degeneration, Impaired neutrophil chemotaxis, Rod-cone dystrophy, Abnormal... |
ORPHA:3132 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233690 |
| Vipoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Ganglio... |
ORPHA:97282 |
| Blau Syndrome |
|
Cataract, Keratitis, Abnormal optic nerve morphology, Abnormality of the liver, Abnormal cranial ... |
ORPHA:90340 |
| Meckel Syndrome |
|
Accessory spleen, Optic atrophy, Microcornea, Cataract, Situs inversus totalis, Aplasia/Hypoplasi... |
ORPHA:564 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Dilated cardiomyopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocyt... |
ORPHA:3260 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Abnormal optic disc morphology, Hyperactivity, Ventricular septal defect |
OMIM:617516 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome... |
ORPHA:77261 |
| Wilson Disease |
|
Hypouricemia, Kayser-Fleischer ring, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomega... |
OMIM:277900 |
| East Syndrome |
|
Polydipsia, Hypomagnesemia, Peripheral hypomyelination, Hypokalemia, Salt craving, Peripheral axo... |
ORPHA:199343 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatom... |
ORPHA:667 |
| Sturge-Weber Syndrome |
|
Optic atrophy, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, At... |
ORPHA:3205 |
| Behçet Disease |
|
Cataract, Retinopathy, Splenomegaly, Irritability, Optic neuritis, Keratoconjunctivitis sicca, Pa... |
ORPHA:117 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia |
OMIM:139090 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro... |
ORPHA:447 |
| Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Pancytopenia, Pericardial effusion, Splenomegaly, Chorioretinitis, G... |
OMIM:181000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Self-injurious behavior, Depression, Abnormal pupil morphology, Hyponatrem... |
ORPHA:534 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Pigmentary retinopathy, Depression, Acanthocytosis, Obsessive-compuls... |
OMIM:234200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia |
ORPHA:90790 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity |
ORPHA:440727 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal... |
OMIM:610199 |
| Wolfram Syndrome |
|
Optic atrophy, Polydipsia, Cardiomyopathy, Abnormal mesentery morphology, Abnormal autonomic nerv... |
ORPHA:3463 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... |
OMIM:268315 |
| Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha... |
OMIM:306400 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior syn... |
ORPHA:91500 |
| Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
| Dyskeratosis Congenita, X-Linked |
|
Optic atrophy, Cataract, Bone marrow hypocellularity, Pterygium, Pancytopenia, Leukopenia, Acute ... |
OMIM:305000 |
| Choreoacanthocytosis |
|
Acanthocytosis, Emotional lability, Hair-pulling, Peripheral axonal neuropathy, Hepatomegaly, Dys... |
ORPHA:2388 |
| Cockayne Syndrome |
|
Lentiglobus, Peripheral axonal neuropathy, Hepatomegaly, Optic disc pallor, Corneal ulceration, R... |
ORPHA:191 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Polydipsia, Hypokalemia, Hy... |
ORPHA:411629 |
| Familial Mediterranean Fever |
|
Depression, Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Peri... |
ORPHA:342 |
| Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per... |
OMIM:613843 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Posterior embryotoxon, Atrial septal defect, Cataract, Cholelithiasis,... |
ORPHA:567 |
| Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Astigmatism, Papilledema, Hypercholesterolemia, Pancreatitis, Rod-co... |
OMIM:619471 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Dpagt1-Cdg |
|
Optic atrophy, Head-banging, Stereotypical body rocking, Astigmatism, Diffuse optic disc pallor, ... |
ORPHA:86309 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Cardiomyopathy, Retinopathy, Ventricular septal defect, Hypokalemia, Enlarged ovaries... |
ORPHA:769 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Ventricular hypertrophy, Polydipsia, Ventricular septal defect |
ORPHA:369929 |
| Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat... |
OMIM:610717 |
| Joubert Syndrome 21 |
|
Optic atrophy, Retinopathy, Splenomegaly, Megalopapilla, Dysphagia |
OMIM:615636 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Elevated circ... |
OMIM:613154 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula |
ORPHA:309246 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hypersplenism, Hepatosplenomegaly, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Splenomegaly, Portal hyperte... |
ORPHA:567983 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Hypokalemia, Decrease... |
OMIM:615474 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Ascites, Hypertrophic cardiomyopathy, Hypophosphatemic rickets, Splenomegaly,... |
OMIM:276700 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Polydipsia |
ORPHA:251274 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Elevated circulating uroporphyrin concentration, Corneal scarring, Splenomegaly, ... |
OMIM:263700 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume |
OMIM:153670 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Optic atrophy, Hyperoxaluria, Cirrhosis, Rod-cone dystrophy, Hepatomegaly |
OMIM:601539 |
| Arima Syndrome |
|
Optic atrophy, Hepatic fibrosis, Polydipsia, Chorioretinal coloboma, Hepatic steatosis, Hepatomeg... |
OMIM:243910 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... |
ORPHA:29073 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Exocrine pancreatic insufficiency, Tetralogy of Fallot, Atrioventricular canal ... |
ORPHA:508498 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy, Abnormal lens morphology |
ORPHA:363417 |
| Sympathetic Ophthalmia |
|
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... |
ORPHA:79098 |
| Pagod Syndrome |
|
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Optic atrophy |
ORPHA:991 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Phace Association |
|
Optic atrophy, Ventricular septal defect, Increased retinal vascularity, Developmental cataract, ... |
OMIM:606519 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia |
ORPHA:428 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,... |
OMIM:267750 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Self-injurious behavior, Astigmatism, Ventricular septal defect, Abnormal ... |
ORPHA:96121 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology,... |
OMIM:607364 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Hypomagnesemia, Peripheral hypomyelination, Hypokalemia, Salt craving, Chronic axonal... |
OMIM:612780 |
| Turcot Syndrome With Polyposis |
|
Abnormal macular morphology, Epiretinal membrane, Hyperpigmentation of the fundus, Hepatoblastoma... |
ORPHA:99818 |
| Gitelman Syndrome |
|
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving, Iron defici... |
ORPHA:358 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea... |
ORPHA:411634 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Hyperbilirubinemia, Increased serum bile acid concentrati... |
OMIM:227810 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Cataract, Self-injurious behavior, Abnormal fear-induced behavior, Abnorma... |
ORPHA:353281 |
| Cholera |
|
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Ventricular septal hypertrophy, Pol... |
OMIM:269700 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnorma... |
ORPHA:649 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Romano-Ward Syndrome |
|
Hypokalemia, Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia, Polydipsia, Hemolytic anemia |
ORPHA:18 |
| Mercury Poisoning |
|
Hypokalemia, Anorexia |
ORPHA:330021 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| African Trypanosomiasis |
|
Keratitis, Hepatosplenomegaly, Splenomegaly, Irritability, Aggressive behavior, Optic neuritis, P... |
ORPHA:3385 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Polydipsia, Decreased circulating renin level |
ORPHA:231580 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci... |
ORPHA:75565 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Alzahrani-Kuwahara Syndrome |
|
Cataract, Coronary sinus enlargement, Astigmatism, Patent foramen ovale, Ventricular septal defec... |
OMIM:619268 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Irritability |
ORPHA:1501 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Gitelman Syndrome |
|
Polydipsia, Hypomagnesemia, Hypokalemia, Salt craving, Increased circulating renin level |
OMIM:263800 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
| Scorpion Envenomation |
|
Mydriasis, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating N... |
ORPHA:466677 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Polydipsia, Hypokalemia, Subvalvular aortic stenosis, Bicarbonaturia |
ORPHA:47159 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polydipsia |
OMIM:617671 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Nelson Syndrome |
|
Hypokalemia, Optic nerve compression |
ORPHA:199244 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Cataract, Self-injurious behavior, Abnormal fear-induced behavior, Abnorma... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Cataract, Self-injurious behavior, Abnormal fear-induced behavior, Abnorma... |
ORPHA:353277 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... |
ORPHA:89938 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Leprechaunism |
|
Hypertrophic cardiomyopathy, Hypokalemia, Enlarged ovaries, Hepatomegaly, Enlarged kidney, Increa... |
ORPHA:508 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Hypomagnesemia, Hypokalemia, Hypo... |
OMIM:241200 |
| Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Cone/cone-rod dystrophy, Polyphagia, Cirrhosis, Hepatomega... |
ORPHA:64 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Pericardial effusion |
ORPHA:91347 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal heart valve morphology, Cystocele, Abnormal pupil morphology, Mitral valve ... |
ORPHA:286 |
