| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... |
OMIM:614470 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
| Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
| Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, C... |
ORPHA:3261 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, Lymphadenopathy, Incre... |
ORPHA:37748 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... |
OMIM:153600 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... |
OMIM:308240 |
| Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... |
ORPHA:91139 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
| Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivity... |
ORPHA:99867 |
| Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Vasculitis |
ORPHA:90026 |
| Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Autoimmunity, Lymphoma, Neoplasm, Multiple myelom... |
ORPHA:454 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... |
ORPHA:2137 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ... |
OMIM:613496 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Rec... |
ORPHA:1572 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... |
OMIM:618913 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth... |
OMIM:616871 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Asbestos Intoxication |
|
Right ventricular failure, Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Cor pulm... |
ORPHA:2302 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| N Syndrome |
|
Cryptorchidism, Leukemia, Neoplasm, Hypospadias |
OMIM:310465 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... |
ORPHA:99931 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
| Q Fever |
|
Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy... |
ORPHA:781 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... |
ORPHA:3287 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... |
ORPHA:486 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... |
OMIM:613779 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ... |
ORPHA:98827 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, A... |
ORPHA:90033 |
| Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:614743 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... |
ORPHA:98850 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, B-cell lymphoma, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:616005 |
| Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
| Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abn... |
ORPHA:33226 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... |
OMIM:615688 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn... |
OMIM:614742 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,... |
ORPHA:375 |
| Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Lymphaden... |
ORPHA:36412 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
| Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
| Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Yellow nails... |
ORPHA:662 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... |
OMIM:619644 |
| Essential Thrombocythemia |
|
Transient ischemic attack, Myelodysplasia, Myocardial infarction, Abnormal cerebral vascular morp... |
ORPHA:3318 |
| Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morph... |
ORPHA:221 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... |
ORPHA:90291 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... |
ORPHA:444463 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... |
OMIM:202700 |
| Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect, Leukemia, Meningioma |
OMIM:602501 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
| Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... |
ORPHA:37042 |
| Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Anti-dsDNA antibody positivity, Juvenile r... |
ORPHA:1855 |
| Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Anti-islet antigen-2 antibody positivity, T-cell acute lymphoblastic leukemias, Inc... |
OMIM:620044 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Cerebral ischemia, Conjunctivitis |
ORPHA:26137 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis,... |
OMIM:304790 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... |
ORPHA:281090 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... |
OMIM:300853 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
| Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art... |
ORPHA:575 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Osteoarthritis, Sarcoma |
ORPHA:2762 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... |
OMIM:615816 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiecta... |
ORPHA:397596 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... |
OMIM:614172 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, ... |
OMIM:240500 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Sinusitis, Renal insufficiency, Epista... |
ORPHA:727 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical ... |
ORPHA:83313 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo... |
ORPHA:729 |
| Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... |
ORPHA:48104 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a... |
OMIM:605724 |
| Werner Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal hair whorl, Squamous cell ... |
ORPHA:902 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Malabsorption, Crypt... |
ORPHA:99812 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosi... |
ORPHA:79087 |
| Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Nephrot... |
ORPHA:93126 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Erythroderma, Lymphadenopat... |
ORPHA:79456 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Abnor... |
OMIM:616414 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... |
ORPHA:137605 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... |
OMIM:225750 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption,... |
ORPHA:100025 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... |
ORPHA:494424 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large... |
ORPHA:49041 |
| Liposarcoma |
|
Varicose veins, Abnormality of the kidney, Sarcoma |
ORPHA:69078 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Persiste... |
OMIM:619151 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... |
OMIM:301045 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... |
ORPHA:449395 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... |
ORPHA:1501 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Splenomegaly, Peripheral arter... |
ORPHA:71493 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
| Bloom Syndrome |
|
Bronchitis, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, Sto... |
ORPHA:125 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Epistaxis, Lymphoma, Neuroblast... |
OMIM:601399 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Jaundice, Pulmonic valve myxoma, Congestiv... |
ORPHA:615 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Increased circulating... |
ORPHA:1304 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
| Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
| Giant Cell Arteritis |
|
Pericarditis, Alopecia, Renal insufficiency, Epistaxis, Sudden cardiac death, Abnormal pleura mor... |
ORPHA:397 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa... |
OMIM:619048 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Leukopenia, Tubulo... |
ORPHA:289390 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Gastrointestinal inflammation, Unusual gastrointestinal infection, Ba... |
ORPHA:48435 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Vasculitis, Recurrent pneum... |
OMIM:617718 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c... |
ORPHA:210548 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... |
ORPHA:3260 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Highly arched eyebrow, Myelodysplasia, Secundum atrial septal d... |
OMIM:619951 |
| Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... |
OMIM:610717 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... |
OMIM:619164 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Pulmonary embol... |
ORPHA:70591 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
| Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... |
OMIM:620282 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho... |
ORPHA:263665 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
| Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc... |
ORPHA:50918 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,... |
ORPHA:900 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Elevated hepatic transam... |
OMIM:260400 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
| Noonan Syndrome 2 |
|
Curly hair, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Sparse e... |
OMIM:605275 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegal... |
OMIM:201475 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, ... |
OMIM:210900 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular hepatic steatosis, Neut... |
OMIM:617303 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Respiratory tract infe... |
ORPHA:567548 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries, Hypertension, Coronary artery atherosclerosi... |
ORPHA:79084 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Kawasaki Disease |
|
Abnormality of nail color, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, ... |
ORPHA:2331 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Pat... |
OMIM:227646 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Splenomegaly, Leu... |
ORPHA:32960 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... |
OMIM:619750 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... |
ORPHA:117 |
| Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Hematologica... |
ORPHA:101330 |
| Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... |
ORPHA:33001 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Conjunctival telangiectasia, Sinusitis, Abnormal ha... |
OMIM:208900 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... |
ORPHA:36234 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:470 |
| Buerger Disease |
|
Vasculitis |
ORPHA:36258 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron... |
OMIM:615703 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphoc... |
OMIM:269920 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Cryptorc... |
OMIM:606593 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatic steatosis, Ethylmalonic aciduria, Increased level of methylsuccinic acid ... |
ORPHA:26792 |
| Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... |
OMIM:243700 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t... |
ORPHA:324964 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:656 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
| Localized Scleroderma |
|
Fasciitis, Abnormality of the kidney, Autoimmunity, Raynaud phenomenon, Vasculitis, Uveitis, Arth... |
ORPHA:90289 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... |
ORPHA:790 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Congestive heart failure, Abnormal heart morphology, Stroke-like episod... |
ORPHA:70472 |
| Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Smoo... |
ORPHA:64743 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Hypotension, Pancreatitis, Pulmonary edema |
ORPHA:70578 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
| Nijmegen Breakage Syndrome |
|
Anorectal anomaly, Low anterior hairline, Neoplasm, Hemolytic anemia, B-cell lymphoma, T-cell lym... |
ORPHA:647 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Malabsorption, Pus... |
ORPHA:793 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... |
ORPHA:93672 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... |
ORPHA:331 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... |
OMIM:300635 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Diffuse leiomyomatosis, Tr... |
ORPHA:1018 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abnormal erythrocyte enzyme level, Increased urinary porphobili... |
ORPHA:100924 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
| Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... |
OMIM:301000 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Abnormal card... |
ORPHA:79086 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnor... |
OMIM:227650 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Retic... |
OMIM:600901 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit... |
OMIM:616100 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Skin rash |
OMIM:601979 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lym... |
ORPHA:2584 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... |
OMIM:617099 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Glycogen accumulation in muscl... |
ORPHA:365 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
| Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Rheumatoid Arthritis |
|
Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi... |
OMIM:180300 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Cleft pala... |
OMIM:257300 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Epistaxis, Myelodysplasia |
ORPHA:721 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Rhabd... |
ORPHA:1052 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... |
OMIM:613490 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Recurrent... |
OMIM:620210 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
| C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta... |
OMIM:620321 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopeni... |
ORPHA:124 |
| Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites, Ab... |
ORPHA:314478 |
| Retinoblastoma |
|
Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ... |
OMIM:180200 |
| Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Autoimmune antibody positivity, Breast carcinoma, Ne... |
ORPHA:1183 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Congestive hea... |
OMIM:235200 |
| 17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Abnormal ... |
ORPHA:97685 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... |
OMIM:614921 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism |
OMIM:612526 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash... |
OMIM:137940 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... |
OMIM:614700 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Congestive heart failure, Generalized hirsutism, Poly... |
ORPHA:2348 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Discoid lup... |
ORPHA:536 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port... |
OMIM:619487 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial fibrosis, Pericard... |
OMIM:253250 |
| Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Premature graying of hair, Leukop... |
OMIM:305000 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
| Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Autoimmunity, Med... |
ORPHA:1546 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Elevated circ... |
OMIM:618805 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Abnormality of the upper urinary tract, Cryptorchidism, Arte... |
ORPHA:636 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... |
OMIM:618495 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tubulointerstitial nephriti... |
ORPHA:90068 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Prominent veins on trunk, Generalized hirsu... |
ORPHA:79083 |
| Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Synophrys, Hypochromic microcytic anemi... |
ORPHA:96123 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Functional abnormality of the ... |
ORPHA:221008 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Ectopic ki... |
OMIM:227645 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis, Renal steatosis |
OMIM:261650 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Telangiectasia of the skin, Myelodysplasia, Sparse eyelashes, Sparse eyebrow, Al... |
ORPHA:2909 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... |
ORPHA:228308 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Iron deficiency anemi... |
ORPHA:79408 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden... |
ORPHA:98848 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Persistent patent ductus venosus, Congenital portosystemic venous shunt, Decre... |
OMIM:601466 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Abnormal pleura... |
ORPHA:3162 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas... |
ORPHA:84064 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
| Milroy Disease |
|
Erysipelas, Angiosarcoma, Varicose veins, Hydrocele testis, Neoplasm of the skin, Abnormal venous... |
ORPHA:79452 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamo... |
ORPHA:221016 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... |
OMIM:231530 |
| Relapsing Polychondritis |
|
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Chondritis, Glomerulopa... |
ORPHA:728 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Lymphaden... |
OMIM:618935 |
| Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... |
ORPHA:77293 |
| Livedoid Vasculopathy |
|
Pancytopenia, Abnormality of the peripheral nervous system, Leukocytosis, Polycythemia, Anemia |
ORPHA:542643 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Renal hypoplasia/aplasia, Abnormality of the lymphatic ... |
ORPHA:870 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
| Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valv... |
ORPHA:289 |
| Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
| Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... |
OMIM:105200 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyt... |
ORPHA:264580 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertension, Polycystic ovaries |
ORPHA:280356 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Lympho... |
ORPHA:39041 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hep... |
OMIM:619013 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Poems Syndrome |
|
Papilledema, Thrombocytosis, Polycythemia |
ORPHA:2905 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Hypospadias, Supraventricular ... |
ORPHA:2959 |
| Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence ... |
OMIM:613254 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... |
ORPHA:398124 |
| Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lun... |
ORPHA:2035 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
| Aicardi-Goutières Syndrome |
|
Enchondroma, Elevated hepatic transaminase, Myositis, Chilblains, Autoimmunity, Cardiomegaly, Neo... |
ORPHA:51 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Renal insufficie... |
OMIM:203800 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Retinal dystrophy, Reticulocytosis |
OMIM:300653 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia, Keratoconjunctivitis sicca, Calcium channel antibody posit... |
ORPHA:43393 |
| Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Papillary cystadenoma of th... |
OMIM:180849 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... |
OMIM:617052 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Arteriosclerosis, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... |
ORPHA:1467 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Er... |
OMIM:214900 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellu... |
ORPHA:391 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
| Congenital Myopathy 8 |
|
Congestive heart failure, High palate, Cardiomegaly |
OMIM:618654 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Pulmonary embolism, Respiratory tract infection, Minimal change glomerulon... |
ORPHA:567546 |
| Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... |
ORPHA:892 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... |
OMIM:212138 |
| Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... |
OMIM:170100 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... |
OMIM:619991 |
| Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... |
ORPHA:90340 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertension, Cirrhosis, Hepatic steatosis, Generalized hirsutism |
ORPHA:363400 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren... |
OMIM:252920 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... |
OMIM:613179 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
| Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom... |
ORPHA:809 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Inf... |
ORPHA:42642 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
| Rotor Syndrome |
|
Bilirubinuria, Jaundice, Porphyrinuria, Intermittent jaundice, Storage in hepatocytes |
ORPHA:3111 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... |
ORPHA:90159 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... |
ORPHA:91387 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
| Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Pheochromocytoma, Polycythemia, Paraganglioma |
OMIM:193300 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
| Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, High palate, Macrovesicular h... |
OMIM:608836 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Anal stenosis, Hypospadias, Eczema, Abnormality of neutrop... |
ORPHA:235 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:620357 |
| Bresek Syndrome |
|
Neonatal death, Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, C... |
ORPHA:445038 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Art... |
OMIM:602390 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Low anterior hairline, Low p... |
ORPHA:528 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Splenomegaly, Lymph... |
OMIM:609981 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Sparse hair, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Highly ... |
OMIM:280000 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Cry... |
OMIM:613563 |
| Optic Atrophy 11 |
|
Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Cherry red spot of the macu... |
OMIM:617302 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myoglobinuria, Red-brown ur... |
ORPHA:228305 |
| Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebra... |
ORPHA:904 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... |
OMIM:606003 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepa... |
OMIM:277900 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
| Fumarase Deficiency |
|
Optic atrophy, Polycythemia |
OMIM:606812 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Proteinuria, Pericard... |
OMIM:212065 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Homocystinuria, Myocardial infarction, Methioninuria, Mitral valve prolapse, High p... |
OMIM:236200 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Velopharyngeal insuffici... |
OMIM:223370 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo... |
ORPHA:251004 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis |
OMIM:620195 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... |
OMIM:614576 |
| Idiopathic Copper-Associated Cirrhosis |
|
Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaund... |
ORPHA:290 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Ventricular arrhythmia, Abnormal atrioventricular cond... |
ORPHA:280365 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Microp... |
OMIM:602782 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit... |
OMIM:618398 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Stroke, Hepatic steatosis |
OMIM:613877 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, Cleft palate, Acut... |
ORPHA:3474 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... |
OMIM:614922 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Myocardial infarction, Cardiomegaly, Cong... |
OMIM:614473 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Schinzel-Giedion Syndrome |
|
Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia, Micropenis, St... |
ORPHA:798 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ... |
OMIM:102700 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Gastroesophageal reflux, Hepatic steatosis, Nephrotic range protei... |
ORPHA:300536 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, N... |
OMIM:612541 |
| Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Neoplasm, Gastroesophageal reflux, Atrial septal defect, Chron... |
ORPHA:821 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Esophageal varix, ... |
OMIM:616028 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Splenomegaly, Myocarditis, Congestive heart failu... |
ORPHA:3386 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Cryptorchidism, Synophrys, Cleft pa... |
ORPHA:254346 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary a... |
OMIM:619064 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Elevated... |
OMIM:615381 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pu... |
OMIM:230800 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia |
OMIM:608068 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndr... |
ORPHA:276152 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory i... |
OMIM:618278 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... |
ORPHA:275761 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestiv... |
OMIM:611126 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hepatic fib... |
ORPHA:79322 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Atrial septal defect, Ventric... |
OMIM:163950 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... |
ORPHA:2414 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosis, Congestive heart failure |
ORPHA:52430 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive hea... |
ORPHA:465508 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Autoimmunity, Elevated circulating aspartate amino... |
ORPHA:158061 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:602347 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Prominent superficial veins, Polycystic ovaries, Hypertension, Cirrhosis, Hepatic steatosis, Hirs... |
OMIM:604367 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vasc... |
OMIM:216360 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Acne, Pituitary adenoma, Primary hyperparathyroidism,... |
ORPHA:189427 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteomyelitis leading to amputation due to slow healing fractures, Premature grayin... |
OMIM:112250 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... |
ORPHA:79259 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Neoplasm,... |
ORPHA:169090 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
| Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophil antibody posi... |
OMIM:301078 |
| Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Neoplasm o... |
ORPHA:79474 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... |
OMIM:261680 |
| Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Ga... |
OMIM:270400 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Lymphoma, Leukonychia, Panni... |
ORPHA:2526 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... |
OMIM:243910 |
| Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Retinal hamart... |
ORPHA:2911 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... |
ORPHA:412 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Retinal dystrophy, Reticulocytosis |
ORPHA:713 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Gracile Syndrome |
|
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Hepatic stea... |
ORPHA:53693 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
| Adrenomyodystrophy |
|
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Abnormal intestine morphology |
ORPHA:977 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri... |
ORPHA:71212 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Neoplasm, P... |
ORPHA:1775 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Patent ductus arterio... |
OMIM:239850 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Retinal detachment, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft palate, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein... |
OMIM:617253 |
| Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... |
ORPHA:379 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
| Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
| Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Pulmonary edema, Alopecia, Fair hair, Cardiomegaly, Hirsutism... |
ORPHA:79330 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hepatic steatosis |
OMIM:615980 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchie... |
OMIM:612387 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, P... |
OMIM:619381 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Hypospadias, Abnor... |
ORPHA:17 |
| Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... |
OMIM:601214 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe... |
ORPHA:75233 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Acanthocytosis, Steatorrh... |
ORPHA:71 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:881 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... |
OMIM:620296 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... |
ORPHA:464329 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Splenomegaly, Jaundic... |
ORPHA:549 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Cryptorchidism, Ves... |
OMIM:130650 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
| Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Proteinu... |
ORPHA:77297 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Vesicoureteral refl... |
ORPHA:116 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia |
ORPHA:309854 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia... |
ORPHA:540 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Neutropenia |
OMIM:609053 |
| Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Esophag... |
ORPHA:95430 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Optic nerve hypoplasia, Thrombocytopenia |
OMIM:301056 |
| Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne... |
ORPHA:73263 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... |
ORPHA:2357 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Pleural effusion,... |
OMIM:616897 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Osteomyelitis, Acne, Peptic ul... |
ORPHA:2796 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur... |
ORPHA:324410 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidi... |
ORPHA:66634 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopath... |
ORPHA:746 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, D... |
OMIM:615895 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis, Hypertension |
OMIM:615238 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Abnormal granulocy... |
ORPHA:98907 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... |
OMIM:208060 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ma... |
OMIM:268800 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:369840 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropen... |
OMIM:616271 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl... |
OMIM:613471 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Conge... |
ORPHA:14 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular outflow tract obstructi... |
ORPHA:308552 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... |
ORPHA:444490 |
| Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Hematochezia, Horizontal eyebrow, Pulmonic stenosis, Common atrium,... |
ORPHA:96168 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr... |
OMIM:192315 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... |
OMIM:208000 |
| Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia |
OMIM:615280 |
| Verheij Syndrome |
|
Optic nerve hypoplasia |
OMIM:615583 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Gastrointestinal dysmotility, Dysphagia, Hypertrophic cardiomyopathy, Abnormal conc... |
ORPHA:391428 |
| Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... |
OMIM:617093 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Intestinal malro... |
OMIM:613658 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:247585 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology |
OMIM:266500 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leuko... |
ORPHA:20 |
| Squalene Synthase Deficiency |
|
Optic nerve hypoplasia |
OMIM:618156 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepatomegaly, Hypospad... |
OMIM:222470 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypopituitarism, Extramedullary hematopoiesis, Decreased mean corpuscular hem... |
ORPHA:231226 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephro... |
OMIM:617713 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Abnormal stomach morphology,... |
ORPHA:141127 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Synophrys, Atrioventricular block, Coarse hair, Aspiration pneumonia, ... |
ORPHA:581 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Stillbirth, Retinal vascular tortuosity, Microphthalmia |
OMIM:243605 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hepatic ste... |
ORPHA:348 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
| Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp... |
ORPHA:2072 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Chops Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Patent ductus arteriosus, High, ... |
OMIM:616368 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:435660 |
| Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis |
ORPHA:79292 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegal... |
OMIM:135500 |
| Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphopenia, Recurrent respiratory infections, Spa... |
ORPHA:2136 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated h... |
OMIM:276700 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
| Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:230000 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Anti-thyroid pe... |
OMIM:610199 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatic failure, Hepatosplenomegaly, ... |
OMIM:608013 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Hypospadias, Folate-unresponsive megaloblastic anemi... |
ORPHA:2575 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Dark yellow urine, Atretic gallblad... |
ORPHA:30391 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... |
OMIM:608594 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Increased ur... |
ORPHA:247598 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Patent ductus arteriosus, Low ant... |
ORPHA:1517 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia |
OMIM:222765 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cardiomegaly, Synophrys, Medulloblastoma, Annular pancreas, Cle... |
ORPHA:97297 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... |
ORPHA:99827 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... |
OMIM:603554 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Patent ductus arteriosus, High palate, Gastroesophageal reflux, Sparse hair... |
OMIM:619934 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Polycystic ovaries, Hypertension, ... |
OMIM:151660 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Brittle hair, Recurrent bronchitis, Cardiomegaly, Sparse eyeb... |
OMIM:252500 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Lipoma, Nephroblastoma, Venous malformation |
OMIM:612918 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased he... |
OMIM:619259 |
| Aicardi Syndrome |
|
Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Me... |
OMIM:304050 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, High palate, Atrial septal defect, Subcutaneous neurofibroma, Patent foramen ovale, Sp... |
ORPHA:363700 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Synophrys, High palate, Otitis media, Micropenis, Hep... |
OMIM:619475 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... |
OMIM:257220 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... |
OMIM:619503 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Elevated h... |
OMIM:229600 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp... |
OMIM:617591 |
| 19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... |
OMIM:249100 |
| White-Sutton Syndrome |
|
Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Abnormal... |
ORPHA:3463 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Lacti... |
OMIM:124000 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... |
ORPHA:221139 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Seborrheic dermatitis, M... |
OMIM:300868 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lym... |
ORPHA:565612 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension ... |
OMIM:105210 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cleft palate, Impaired myocardial contractility, ... |
ORPHA:158687 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisov... |
OMIM:210200 |
| Fg Syndrome Type 1 |
|
Optic nerve hypoplasia |
ORPHA:93932 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Hypoplasia of penis, High, narrow palate, Neoplasm, At... |
ORPHA:373 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Premature graying of hair, Increased circulating IgG level, Conj... |
OMIM:256040 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Neoplasm of the skin |
ORPHA:53715 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophagitis, Achalasia, Hepatic steatosis |
OMIM:615356 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
| Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia, Anemia |
OMIM:609069 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Congenital Erythropoietic Porphyria |
|
Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Red-brown u... |
ORPHA:79277 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Recurren... |
ORPHA:77261 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... |
OMIM:616263 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Nodular regenerati... |
ORPHA:404454 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... |
OMIM:236670 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Hypospadias, Microvesicu... |
OMIM:220111 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Emphysema, Abnormal sa... |
OMIM:181000 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, High palate, Cardiomegaly |
OMIM:618798 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, C... |
ORPHA:31826 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Ectopic kidney, High palate, Atrial septal defect, Hypospadias, Cryptorchidism, Patent ... |
OMIM:135900 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, High palate, Hirsuti... |
ORPHA:2463 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of a... |
OMIM:617088 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Intestinal malrotation, Cleft soft palate, Leukocytosis, Renal hypoplasia, Hypoplasia o... |
OMIM:619321 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, L... |
OMIM:245600 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Secundum atrial septal defect, Cavernous hemangioma of the face, Subar... |
ORPHA:99646 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... |
ORPHA:29073 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia |
OMIM:620306 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerat... |
OMIM:312870 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ... |
ORPHA:51608 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia |
OMIM:615574 |
| Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin |
ORPHA:319552 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... |
ORPHA:468631 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Highly arched eyebrow, Cardiomegaly, Cryptorchidism, Macroglossia |
OMIM:618143 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Microphth... |
ORPHA:508498 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, C... |
OMIM:300967 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia |
OMIM:617506 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary art... |
OMIM:615947 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
| Marshall-Smith Syndrome |
|
Optic nerve hypoplasia |
OMIM:602535 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Gastric ulcer, Decreased circulating antibody level |
OMIM:604928 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Optic nerve hypoplasia |
ORPHA:352665 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hepatic steatosis, Gen... |
ORPHA:91 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Hypospadias, Cardiomegaly, Sparse... |
ORPHA:3472 |
| Hydranencephaly |
|
Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
OMIM:301043 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Lens coloboma, Retinal vascular malformation |
ORPHA:42775 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon |
ORPHA:59315 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa... |
OMIM:243800 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia |
ORPHA:226307 |
| Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| 8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
| Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:500150 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia |
OMIM:620330 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia |
OMIM:619841 |
