| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia, Congenital alopecia totalis |
ORPHA:169095 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
| Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly |
OMIM:609981 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy |
OMIM:601705 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneration, Irritability, Retinal de... |
OMIM:256730 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Immunodeficiency 43 |
|
Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... |
OMIM:241600 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Fair hair, Albinism, Splenomegaly, Ocular albinism,... |
OMIM:608233 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy |
ORPHA:477814 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Bone marrow hypocellularity, ... |
OMIM:620133 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyopathy, Neut... |
ORPHA:79312 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
| Combined Saposin Deficiency |
|
Splenomegaly, Optic atrophy, Hepatomegaly |
OMIM:611721 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Abnormal T cell subset distribution, Low posterior hairline, B lymphocyto... |
ORPHA:221139 |
| Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Dep... |
ORPHA:228346 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Cardiomyopathy,... |
ORPHA:27 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:613313 |
| Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoprot... |
OMIM:152800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:256550 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... |
ORPHA:848 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Absent axillary hair, Thrombocytopenia |
OMIM:269600 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, Optic atrophy, Atri... |
ORPHA:49827 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Sandhoff Disease |
|
Splenomegaly, Cherry red spot of the macula, Hepatomegaly |
ORPHA:796 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, Autoimm... |
OMIM:615559 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency 70 |
|
Retinal vasculitis, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,... |
OMIM:249270 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... |
OMIM:209950 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ve... |
OMIM:615673 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lym... |
ORPHA:79477 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Decreased p... |
ORPHA:331235 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Depression, Leukopenia, Thrombo... |
ORPHA:108 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia |
OMIM:615010 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... |
OMIM:606069 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level |
OMIM:612126 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Irritability, Cherry red spot of the macula |
OMIM:228000 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... |
ORPHA:101096 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... |
ORPHA:508533 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Optic atrophy, Depression, Irritability, Compulsive behaviors, Dysphagia, Emotional ... |
ORPHA:216873 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Cataract, Hepatomegaly |
ORPHA:79238 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... |
OMIM:620010 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Synophrys, Splenomegaly, Optic atrophy, Low anterior hairline, En... |
OMIM:617303 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Irritabil... |
OMIM:257200 |
| Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Elevated circulating creatine kinase ... |
OMIM:610377 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Dysphagia, Hepatosplenomegaly, Abnormal h... |
ORPHA:93399 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Retinal dystrophy, Ventricular septal defect, Eosinop... |
OMIM:616651 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:247691 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditi... |
ORPHA:549 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
| Galactosemia Iii |
|
Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly |
OMIM:230350 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Thromb... |
OMIM:259720 |
| Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ... |
ORPHA:84064 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hyperammonemia, Dysphagia, Irritability, Neutropenia, Sparse hair |
OMIM:618253 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph... |
OMIM:300438 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
| Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Ascites, Abnormal macular morphology |
ORPHA:87876 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... |
OMIM:216550 |
| Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Cataract, Macular atrophy, Elevated circulating creatine k... |
OMIM:242840 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Depression, Hepatosplenomegaly |
ORPHA:309288 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, ... |
ORPHA:293978 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia |
ORPHA:53 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly |
ORPHA:86893 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Cardiomyopathy, Pigmentary r... |
OMIM:222300 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Hyperc... |
ORPHA:199299 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Dilated cardiomyopathy, Vacuolated l... |
OMIM:230500 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... |
ORPHA:100924 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart m... |
ORPHA:93400 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,... |
OMIM:252930 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
| Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Microcytic anemia, Abnormal hair morphology, Optic atrophy, Rod-... |
ORPHA:324737 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Retinal vasculitis, Decreased proportion of CD4-positive... |
OMIM:615758 |
| Aceruloplasminemia |
|
Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Retinal d... |
OMIM:604290 |
| Cach Syndrome |
|
Cataract, Optic atrophy, Nonketotic hyperglycinemia, Hepatosplenomegaly, Irritability, Optic neur... |
ORPHA:135 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Sarcosinemia |
|
Optic atrophy, Hypersarcosinemia, Pulmonic stenosis, Emotional lability, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Emotional lability, Po... |
ORPHA:179494 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... |
ORPHA:824 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita... |
OMIM:619046 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Splenomegaly |
OMIM:617767 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Optic Atrophy 11 |
|
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Stereotypica... |
OMIM:617302 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci... |
OMIM:259700 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, Re... |
OMIM:608799 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyte morpho... |
ORPHA:3162 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Anorexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Anemia |
OMIM:175500 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... |
OMIM:615122 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Astigmatism, Hyperkalemia, Anemia |
ORPHA:97362 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Asymmetr... |
OMIM:252920 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Premature graying of hair, Nail dystrophy, Bone marrow hypocellularity, Abnormally ... |
OMIM:619767 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st... |
OMIM:230800 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Sple... |
ORPHA:77259 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cataract, Anorexia, Splenomegaly, Anemia, Dystrophic toenail, Patchy alop... |
ORPHA:2930 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Alopecia totalis, Elevated circulating creatine kinase co... |
OMIM:618775 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Aggressive behavior, Optic atrophy, Cardiomyopathy, Rod-cone dystrophy, T... |
OMIM:617710 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... |
OMIM:300842 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Orthostati... |
ORPHA:66628 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Aplasia/Hypopl... |
ORPHA:39041 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:235200 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Autoimmune thromboc... |
OMIM:245200 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor, Drusen |
OMIM:618632 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Sparse axi... |
ORPHA:95409 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Cataract, Eosinophilia, Supernumerary nipp... |
OMIM:308300 |
| Alg8-Cdg |
|
Hyponatremia, Cataract, Optic atrophy, Anemia, Ascites, Retinopathy, Thrombocytopenia |
ORPHA:79325 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Optic atr... |
OMIM:610198 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Long eyelashes, Optic atrophy, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Dysphagia, Hypertrichosis |
OMIM:612379 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphat... |
ORPHA:31824 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
| Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Splenomegaly, Jaundice, Hypersexuality, Hepatitis, Depression,... |
ORPHA:905 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Synophrys, Splenomegaly,... |
OMIM:606003 |
| Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Neonatal death |
OMIM:613730 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Lympho... |
OMIM:617591 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Retinal deg... |
OMIM:615630 |
| Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentra... |
ORPHA:772 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thick hair, Thrombocytopenia, Optic atrophy, Enlarged kidney... |
ORPHA:505248 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Hemolytic anemia, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalce... |
ORPHA:544482 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... |
ORPHA:47612 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia, Dysph... |
OMIM:617913 |
| Macrocephaly/Autism Syndrome |
|
Splenomegaly, Coarse hair, Lymphopenia, Hepatomegaly |
OMIM:605309 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney |
OMIM:602088 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Sparse axi... |
ORPHA:85138 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Splenomegaly, Cardiomyopathy, Retinopathy |
ORPHA:773 |
| Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Increased mean platel... |
OMIM:222470 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... |
OMIM:615895 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Pericardia... |
OMIM:619487 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin conce... |
ORPHA:48818 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... |
OMIM:260920 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Dysphagia, Temporal optic disc... |
ORPHA:98673 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Dysphagia |
OMIM:230600 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... |
ORPHA:53035 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis |
ORPHA:171876 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, O... |
ORPHA:354 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp... |
ORPHA:465508 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,... |
OMIM:252900 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Conjunctivitis, Anemia |
ORPHA:575 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Hypokalemia, Hypophosphatemia, Retinopathy, Polydipsia, Abn... |
ORPHA:213 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atroph... |
OMIM:251900 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Acanthocytosis, Optic atrophy, Depress... |
ORPHA:157850 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
| Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Low posterior h... |
OMIM:604173 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Retinal degeneration, ... |
OMIM:248500 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Viral hepatitis, Hepatocellular carcinoma, Abnormal... |
ORPHA:101330 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Pericarditis, Hepatomegaly, Myocarditis, Splenomegaly, Mediastinal ly... |
ORPHA:809 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Peri... |
OMIM:612541 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Neutropenia in presence of anti-n... |
ORPHA:525731 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Fair hair, Hepatomegaly, Cardiomegaly, Thrombocyto... |
ORPHA:79330 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
ORPHA:540 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Synophrys, Coarse hair, Generalized hirsutism, Retinal degeneration, H... |
ORPHA:581 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Patent foram... |
OMIM:251290 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair ... |
OMIM:208900 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... |
ORPHA:580 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Thick ha... |
ORPHA:193 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Chops Syndrome |
|
Curly hair, Cataract, Ventricular septal defect, Thick hair, Splenomegaly, Synophrys, Optic atrop... |
OMIM:616368 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Leukopenia, Abnor... |
ORPHA:1304 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calcification, Hyperphos... |
OMIM:127000 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splenomegaly, Optic... |
ORPHA:579 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites |
ORPHA:2414 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen... |
ORPHA:79282 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, ... |
OMIM:309900 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Retinal dystrophy, Splenomegaly, Spherocytosis, Mitral valve prolapse, Microcor... |
ORPHA:251066 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia,... |
ORPHA:37042 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93473 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dilated cardiomyopathy, Opt... |
ORPHA:66634 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hyperu... |
OMIM:232220 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein conc... |
ORPHA:50918 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Conjugated hy... |
OMIM:614866 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Mediastinal lympha... |
ORPHA:3452 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Optic atrophy, Hyperammonemia, Conjunctivitis |
OMIM:253260 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Anorexia, Abnormal retinal vascular ... |
ORPHA:33226 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability, Alopecia of s... |
OMIM:201100 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Pericarditis, Reticulocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Re... |
OMIM:219800 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus |
OMIM:616589 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Cardiomyopathy... |
OMIM:607014 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Microcytic anemia, Abnormal optic disc morphology, Decreased corneal thick... |
ORPHA:293967 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto... |
OMIM:257220 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Optic atrophy, Dysphagia |
OMIM:619708 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Anorexia |
ORPHA:361 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph... |
ORPHA:2526 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly |
ORPHA:466934 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Peripheral demyelination, Retinal degeneration |
OMIM:272200 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c... |
OMIM:615434 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline, Develop... |
OMIM:618440 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Tortuosity of conjunctival vess... |
OMIM:230000 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,... |
OMIM:619418 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Optic atrophy, Thick eyebrow, Fine hair |
OMIM:614800 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepatic steatosis, Hypertrophic card... |
ORPHA:436271 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Optic... |
ORPHA:1187 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... |
OMIM:607625 |
| Poems Syndrome |
|
Papilledema, Pericardial effusion, Leukonychia, Lymphadenopathy, Thrombocytosis, Ascites, Polycyt... |
ORPHA:2905 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... |
OMIM:222700 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia |
OMIM:611489 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
| Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, ... |
OMIM:216360 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Optic atr... |
OMIM:234050 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Hennekam Syndrome |
|
Sparse axillary hair, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenop... |
ORPHA:2136 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Optic nerve compression, Hypocalcemic seizures |
OMIM:612301 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Optic atrophy, Pigmentary retinopathy, Hyp... |
OMIM:220110 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myoc... |
ORPHA:781 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ... |
ORPHA:125 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukopenia, Hypertrophic cardi... |
ORPHA:1328 |
| Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Optic atrophy, Abnormal T cel... |
ORPHA:3132 |
| Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Developmental cataract, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcem... |
ORPHA:93325 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
| Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Dry hair, He... |
ORPHA:90324 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated he... |
OMIM:619991 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:32960 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... |
ORPHA:1655 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
| Microsporidiosis |
|
Brain abscess, Cholangitis, Anorexia, Keratitis, Myocarditis, Abnormality of the spleen, Lymphade... |
ORPHA:2552 |
| Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymph... |
ORPHA:509 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Depression, Sclero... |
ORPHA:2137 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Splenomegaly, Jaundice... |
OMIM:615512 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Azotemia, Hepat... |
OMIM:619321 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Thrombocytopenia, Optic atrophy, Fine hair, Premature graying of hair, Ex... |
OMIM:612199 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hirsutism |
ORPHA:90791 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Corneal erosion, Dilated cardi... |
ORPHA:89842 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Abnormal eyelash morphology, Optic atrophy, Microcornea, Macular hypop... |
OMIM:147791 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Apparent Mineralocorticoid Excess |
|
Hypertensive retinopathy, Hypokalemia, Left ventricular hypertrophy, Polydipsia, Decreased circul... |
ORPHA:320 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Splenomegaly, Lym... |
ORPHA:667 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Thick hair, Low anterior hairline, Premature graying... |
ORPHA:769 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepatic steatosis, Hemolytic ... |
OMIM:277900 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivitis, Cholecy... |
ORPHA:99827 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... |
ORPHA:423 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Alopecia, Pancytopenia, Sparse eyelashes, Cataract, Thrombocytopenia, Opt... |
OMIM:305000 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Conjunctival icterus, Optic atrophy, Perimembranous ventricular septal ... |
OMIM:606812 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... |
ORPHA:293987 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Abnormality of the spleen... |
ORPHA:2072 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash... |
OMIM:263700 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Erythroid hyperplasi... |
ORPHA:79277 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Abnormality of the peripheral nervous system, Biliar... |
ORPHA:289390 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Hypoammonemi... |
ORPHA:534 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... |
ORPHA:217085 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Nodular regenerative hyperplasia of liv... |
ORPHA:404454 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... |
ORPHA:217093 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Blau Syndrome |
|
Pericarditis, Cataract, Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neu... |
ORPHA:90340 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Truncus arteriosus, Abnormal optic disc morphology, Ventricular septal defect |
OMIM:617516 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Pancreatic fibrosis, Sclerocornea,... |
ORPHA:564 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
| Cockayne Syndrome |
|
Dry hair, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatomegaly, Retin... |
ORPHA:191 |
| Behçet Disease |
|
Pericarditis, Cataract, Anorexia, Retrobulbar optic neuritis, Splenomegaly, Endocarditis, Lymphad... |
ORPHA:117 |
| East Syndrome |
|
Peripheral axonal neuropathy, Salt craving, Hypokalemia, Peripheral hypomyelination, Increased ci... |
ORPHA:199343 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Abnorm... |
ORPHA:97282 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
| Dpagt1-Cdg |
|
Hepatomegaly, Aggressive behavior, Optic atrophy, Head-banging, Developmental cataract, Stereotyp... |
ORPHA:86309 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Pigmentary ret... |
OMIM:234200 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
| Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal audi... |
OMIM:216400 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia |
ORPHA:90790 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Pericardial ... |
OMIM:181000 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Abnormality of the tonsils, Depress... |
ORPHA:567 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Wolfram Syndrome |
|
Abnormal mesentery morphology, Optic atrophy, Cardiomyopathy, Abnormal autonomic nervous system p... |
ORPHA:3463 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... |
ORPHA:2388 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia, Abnormal... |
ORPHA:411629 |
| Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Dec... |
OMIM:133540 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Astigmatism, Atrial septal defect, Hypercholesterolemia, Rod-cone dystrophy, Pancrea... |
OMIM:619471 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu... |
OMIM:276700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen... |
OMIM:613154 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Joubert Syndrome 21 |
|
Splenomegaly, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy |
OMIM:615636 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Hypokalemia, Polydipsia, Ventricular septal defect |
ORPHA:369929 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... |
ORPHA:567983 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Left ventricular hypertrophy, ... |
OMIM:615474 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair, Hepatomegaly, Catarac... |
ORPHA:394 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Optic nerve h... |
ORPHA:508498 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypokalemia, Polydipsia |
ORPHA:251274 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional l... |
ORPHA:428 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Ventricular septal defect, Aggressive behavior, Sparse anterior sca... |
ORPHA:96121 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Cataract, Abnormal heart valve morphology, Abnormality of the spleen... |
ORPHA:1606 |
| Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Optic atrophy, Hepatic fibrosis, Chorioretinal coloboma, Cirrhos... |
OMIM:243910 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... |
OMIM:267750 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Po... |
OMIM:269700 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Optic atrophy, Hypoplastic left heart |
ORPHA:991 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy |
OMIM:601539 |
| 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 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressiv... |
ORPHA:353281 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Turcot Syndrome With Polyposis |
|
Papilledema, Hyperpigmentation of the fundus, Epiretinal membrane, Hepatoblastoma, Leukemia, Abno... |
ORPHA:99818 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Pericardial effusion, Hypermagnesemia, Iron deficiency an... |
ORPHA:358 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Salt craving, Hypokalemia, Peripheral hypomyelination, Increased circu... |
OMIM:612780 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ... |
OMIM:607364 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
| Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... |
OMIM:227810 |
| African Trypanosomiasis |
|
Papilledema, Alopecia, Pericarditis, Hepatomegaly, Aggressive behavior, Keratitis, Myocarditis, S... |
ORPHA:3385 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Stereo... |
ORPHA:438213 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Hypokalemia, Hirsutism |
OMIM:219090 |
| Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hypokalemia, Polydipsia |
ORPHA:18 |
| Adrenocortical Carcinoma |
|
Irritability, Hypokalemia, Hypertrichosis |
ORPHA:1501 |
| Romano-Ward Syndrome |
|
Hypokalemia, Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Frontal balding, Hyperkalemia, Hypochloremia, Hirsutism |
ORPHA:90794 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Mercury Poisoning |
|
Hypokalemia, Anorexia |
ORPHA:330021 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| 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 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Double inlet left ventricle, Sparse ha... |
OMIM:619869 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Polydipsia, Decreased circulating renin level |
ORPHA:231580 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple |
ORPHA:397715 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
OMIM:263800 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Myocarditis, Hyp... |
ORPHA:466677 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hypokalemia, Hirsutism, Decreased circulating renin level |
ORPHA:90795 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow,... |
ORPHA:353277 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Bicarbonaturia, Hypokalemia, Subvalvular aortic stenosis, Polydipsia |
ORPHA:47159 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Nelson Syndrome |
|
Hypokalemia, Optic nerve compression |
ORPHA:199244 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Absent axillary hair, Hypokalemia, Absent pubic hair |
ORPHA:90793 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Hypokalemia, Increased circulating renin level, Facial hypertrich... |
ORPHA:508 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Alström Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Drusen, Posterior subcaps... |
ORPHA:64 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Hypokalemia, Abnormal hair quantity |
ORPHA:91347 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Hypokalemia, Hirsutism |
ORPHA:786 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormal heart valve morphology, Abnormality of hair texture, Abnormal eye... |
ORPHA:286 |
