Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... |
OMIM:610947 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... |
OMIM:604416 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... |
OMIM:209950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Anxiety, Increased mean corpu... |
ORPHA:90041 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Myocardial infa... |
OMIM:615703 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Irritability, Hypercalcemia |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Hypophosphatasia |
|
Anemia, Irritability, Hypercalcemia |
ORPHA:436 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, ... |
ORPHA:94090 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cognitive impairment, Mental deterioration, Elevated circulating creatine kinase concentration, T... |
OMIM:208920 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Cognitive impairment, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, M... |
ORPHA:247585 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Decreased proportion of CD3-positive ... |
ORPHA:90362 |
Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis |
OMIM:143880 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia |
OMIM:226300 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Coronary artery stenosis, Hypercholesterolemia |
OMIM:615812 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT ... |
OMIM:601005 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171420 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Oculogyric crisis, Elevated circulating creatine kina... |
ORPHA:94093 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... |
OMIM:615934 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... |
ORPHA:292 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Cognitive impairment, Memory impairment, Suicidal ideation, Hyperuricemia, Hyperch... |
ORPHA:77296 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Elevated transferrin saturation, Incre... |
OMIM:604250 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, H... |
ORPHA:401923 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Irritability, Hypercalcemia |
OMIM:241500 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Irritability, Hypercholesterolemia |
ORPHA:263501 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Intention tremor, Thrombocytosis, Hypocholesterolemia, Tremor, Cardiomyopathy, Hypoa... |
OMIM:212065 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Nephrotic Syndrome, Type 14 |
|
Mental deterioration, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Aggressive behavior, Hypoproteinemia |
OMIM:608093 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Cognitive impairment, Left ventricular hypertrophy, Progressive neurologic deterior... |
ORPHA:90065 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:618805 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Episodic hemolytic anemia, Increased blood urea nitrogen, ... |
ORPHA:251004 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures |
OMIM:146200 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Beta-Ketothiolase Deficiency |
|
Apathy, Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia |
ORPHA:134 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... |
ORPHA:64743 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Elevated circulating creatin... |
ORPHA:26793 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... |
ORPHA:2070 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Emotional lability, Thrombocytosis, Hypoalbuminemi... |
ORPHA:88673 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Pulmonic stenosis, Cognitive impairment, Tetralogy of Fallot, Increased mean platel... |
OMIM:222470 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Leptospirosis |
|
Hyperproteinemia, Pericarditis, Thrombocytopenia |
ORPHA:509 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apathy, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Dilated cardiomyopathy, Hyperur... |
ORPHA:20 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... |
OMIM:243150 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Psychomotor deter... |
ORPHA:79237 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea, Anxiety, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... |
OMIM:301074 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Smith-Magenis Syndrome |
|
Head-banging, Self-mutilation, Hypertriglyceridemia, Hypercholesterolemia, Abnormal heart morphology |
OMIM:182290 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Lymphopenia, Atrial septal defect, Splenomegaly, Hypoplasia of the thymus,... |
ORPHA:84064 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... |
ORPHA:36913 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... |
OMIM:619313 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mastocytosis |
|
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia |
ORPHA:98292 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Hypoproteinemia, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Self-mutilation, Tremor, Complete atrioventricular canal defect, Aggressive behavior, Hypercalcemia |
ORPHA:476126 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Short term memory impairment, Hypertriglyceridemia, Xant... |
OMIM:277460 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thrombocytopenia, Perimem... |
OMIM:608104 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Self-injurious behavior, Anxiety, Autoimmune thrombocytopenia, Thromb... |
ORPHA:324636 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Hematochezia, Common atrium, Infantile hypercalcemia, Epistaxis |
ORPHA:96168 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Anemia, Hypoproteinemia |
ORPHA:2315 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171300 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponat... |
ORPHA:199299 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Lymphocytosis, Hyperbilirubinemia, Hyperammo... |
ORPHA:1667 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Alg1-Cdg |
|
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:618348 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Hypoalbuminemia, Anemia... |
ORPHA:67 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia, Hypertrophic cardiomyopath... |
ORPHA:528 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic stenosis, Tachycard... |
ORPHA:3426 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... |
ORPHA:95409 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Leukopenia, En... |
ORPHA:1304 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... |
ORPHA:94089 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... |
ORPHA:124 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Ventricular septal defect |
ORPHA:1655 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Intraalveolar phosph... |
ORPHA:470 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:370 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
Aicardi-Goutieres Syndrome 9 |
|
Self-mutilation, Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Hemolytic anemia... |
OMIM:619487 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia, Abnormal h... |
ORPHA:369837 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Hypoalbuminemia, Neu... |
OMIM:617303 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... |
ORPHA:3260 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, ... |
OMIM:618183 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Addison Disease |
|
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... |
ORPHA:85138 |
Sneddon Syndrome |
|
Mental deterioration, Tremor, Bicuspid aortic valve, Lymphopenia |
OMIM:182410 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Pericardial effusion |
ORPHA:2905 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... |
ORPHA:73224 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Ventricular septal defect, Cardiomegaly, Hyperbilir... |
OMIM:619991 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:264580 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas... |
ORPHA:36234 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Steatorrhea, Cognitive impairment, Hepatosplenomegaly, Hypertriglyceridem... |
ORPHA:275761 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... |
OMIM:242150 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhyt... |
ORPHA:746 |
Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Congenital hypoplastic anemia, Tricuspid stenosis, Ventricular septal defec... |
OMIM:105650 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal cardiomyocyte morphology, Hepatosplenomegaly, Dilated cardiomyopathy, Hypoalbuminemia |
ORPHA:367 |
Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Increased circulating NT-proBNP conce... |
ORPHA:85443 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Arrhythmia |
ORPHA:2238 |
Wilson Disease |
|
Increased circulating copper concentration, Dementia, Hyperbilirubinemia, Hand tremor, Splenomega... |
OMIM:277900 |
Dysbetalipoproteinemia |
|
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... |
ORPHA:412 |
Immunodeficiency 47 |
|
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circulating copper conce... |
OMIM:300972 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Anxiety, Self-injurious behavior, Hypercholesterolemia |
ORPHA:819 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Thrombocytopenia, Lymphopenia, Tetralogy of Fallot |
OMIM:618624 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse, Hypocalcemia |
ORPHA:1563 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol... |
ORPHA:79240 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... |
OMIM:601678 |
Vipoma |
|
Hypokalemia, Normochromic anemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97282 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Anxiety, Decreased serum iron, Decreased plasma carn... |
ORPHA:89842 |
Somatostatinoma |
|
Increased circulating cortisol level, Hypercalcemia, Hypochromic microcytic anemia, Steatorrhea |
ORPHA:97283 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Reticulocytos... |
ORPHA:14 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Glucagonoma |
|
Increased circulating cortisol level, Steatorrhea, Acanthocytosis, Hypercalcemia, Normochromic an... |
ORPHA:97280 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Hypocholesterolemia, Biventricular hypertr... |
ORPHA:79324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Hypocalcemia |
OMIM:618476 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Leukopenia, Hepatosplenomegaly, Patent foramen... |
ORPHA:505248 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:99880 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:143 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:255249 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Hypercholesterolemia |
ORPHA:69663 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia, Progressive neurologic deterioration |
OMIM:618329 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Anxiety, Writer's cramp, Hyperphosphatemia, Emotional lability |
ORPHA:428 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Patent foramen ovale |
OMIM:607143 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... |
ORPHA:173 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased circulating cortisol level, Hypercalcemia, Hematochezia |
ORPHA:913 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... |
ORPHA:2298 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... |
ORPHA:904 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cognitive impairment, Hypertriglyceridemia... |
ORPHA:79259 |
Pearson Syndrome |
|
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Steatorrh... |
ORPHA:699 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... |
ORPHA:391665 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypercalcemia, Periapical tooth abscess |
ORPHA:437 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, ... |
ORPHA:79444 |
Ataxia-Telangiectasia |
|
Tremor, Lymphopenia, Cognitive impairment |
ORPHA:100 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Hypercholesterolemia |
OMIM:619471 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Multiple Endocrine Neoplasia Type 2 |
|
Anxiety, Hypercalcemia |
ORPHA:653 |
Sarcoidosis |
|
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... |
ORPHA:797 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Pseudohypoparathyroidism Type 1A |
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Hypocalcemia, Laryngeal dystonia, Irritability, Anxiety, Abnormal platelet function, Hypocalcemic... |
ORPHA:79443 |
Multiple Endocrine Neoplasia Type 4 |
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Hypercalcemia, Increased circulating cortisol level |
ORPHA:276152 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypocalcemia, Atrial septal defect, Hyperbilirubinemia, Ventricular septal defect, Anemia, Thromb... |
ORPHA:163979 |
Immunodeficiency 31C |
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Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Atrial septal defect, Ventricular septal defect, Pericardial lymphangiectasia, Hypoalbuminemia, P... |
OMIM:235510 |
Osteopetrosis With Renal Tubular Acidosis |
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Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Elliptocytosis, Pan... |
ORPHA:2785 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:612462 |
Juvenile Polyposis Of Infancy |
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Atrial septal defect, Hypoalbuminemia, Refractory anemia, Anemia, Abnormal heart morphology |
ORPHA:79076 |
Ethylene Glycol Poisoning |
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Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... |
ORPHA:31826 |
Stiff-Person Syndrome |
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Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety, Anemia |
OMIM:184850 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia |
OMIM:617591 |
Gitelman Syndrome |
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Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... |
ORPHA:358 |
Velocardiofacial Syndrome |
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Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Aggressive behavior, Emotional labi... |
OMIM:192430 |
Cartilage-Hair Hypoplasia |
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Abnormal cardiac septum morphology, Hypocalcemia, Cognitive impairment, Neutropenia, Anemia, Card... |
ORPHA:175 |
Infection-Related Hemolytic Uremic Syndrome |
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Hypocalcemia, Leukocytosis, Brain abscess, Myocarditis, Hemolytic anemia, Hyponatremia, Thrombocy... |
ORPHA:544482 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Hypertension, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Tay-Sachs Disease |
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Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Myxomatous ... |
OMIM:194050 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Immunodeficiency 36 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Lujo Hemorrhagic Fever |
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Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Resting tremor,... |
ORPHA:319213 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombocytopenia, Hyperkalemia |
OMIM:617053 |
Ataxia-Telangiectasia |
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Lymphopenia, Elevated alpha-fetoprotein, Intention tremor, Hypoplasia of the thymus, T lymphocyto... |
OMIM:208900 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Multiple Endocrine Neoplasia Type 1 |
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Melena, Hematemesis, Increased circulating cortisol level, Primary hypercortisolism, Hypercalcemi... |
ORPHA:652 |
Sanjad-Sakati Syndrome |
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Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Oncogenic Osteomalacia |
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Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Pulmonic stenosis, Eleva... |
OMIM:253800 |
Autosomal Dominant Severe Congenital Neutropenia |
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Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Leukocyte Adhesion Deficiency |
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Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired platelet agg... |
ORPHA:2968 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal pulmonary valve morphology, Hypophosphatemia, Hypocalcemia, Splenomegaly, Tremor, Anemia |
ORPHA:667 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... |
ORPHA:411634 |
Stiff Person Spectrum Disorder |
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Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
Legionnaires Disease |
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Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hyponatremia, Pericarditis |
ORPHA:549 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology |
ORPHA:2237 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Lymphopenia, Aggressive behavior, Irritability |
ORPHA:391307 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypophosphatemia, Hypokalemia, Self-injurious behavior, Hypoammonemia, Anxiety, Hyperaldosteronis... |
ORPHA:534 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Sotos Syndrome |
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Atrial septal defect, Anxiety, Ventricular septal defect, Tremor, Aggressive behavior, Hypercalce... |
ORPHA:821 |
Schimke Immuno-Osseous Dysplasia |
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Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of na... |
ORPHA:1830 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Anemia, Hypoalbuminemia |
ORPHA:79396 |
Craniofacioskeletal Syndrome |
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Ventricular septal defect, Hypocalcemia, Atrial septal defect |
OMIM:300712 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Atrioventricular canal defect, Ventricular septal d... |
OMIM:619534 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Visceral Steatosis, Congenital |
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Hypocalcemia, Myocardial steatosis |
OMIM:228100 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... |
ORPHA:466650 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Galloway-Mowat Syndrome 3 |
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Hypoalbuminemia |
OMIM:617729 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Galloway-Mowat Syndrome 1 |
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Dystonia, Hypoalbuminemia |
OMIM:251300 |
Xfe Progeroid Syndrome |
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Hypoalbuminemia |
OMIM:610965 |
Lowe Oculocerebrorenal Syndrome |
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Bicarbonaturia, Aggressive behavior, Hypercholesterolemia, Elevated maternal serum alpha-fetoprot... |
OMIM:309000 |
Hennekam Syndrome |
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Hypocalcemia, Lymphopenia, Pericardial effusion, Splenomegaly |
ORPHA:2136 |
Tay-Sachs Disease |
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Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Anxiety, M... |
ORPHA:845 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Lymphopenia, Cognitive impairment, Abnormal circulating lipid concentration, Dilated cardiomyopat... |
OMIM:616541 |
Immunodeficiency 87 And Autoimmunity |
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Hypokalemia, Lymphopenia, Atrial septal defect, Elevated circulating C-reactive protein concentra... |
OMIM:619573 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Alagille Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypertriglyceridemia, Hyper... |
OMIM:118450 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Pediatric Systemic Lupus Erythematosus |
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Lymphopenia, Cognitive impairment, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopeni... |
ORPHA:93552 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia |
OMIM:613658 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Thymic Aplasia |
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Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Hypoplasia of the th... |
OMIM:612541 |
Doors Syndrome |
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Double outlet right ventricle, Thrombocytosis |
ORPHA:79500 |
Macrocephaly/Autism Syndrome |
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Lymphopenia, Splenomegaly |
OMIM:605309 |
22Q11.2 Deletion Syndrome |
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Tricuspid atresia, Abnormal pulmonary valve morphology, Hypocalcemia, Atrial septal defect, Splen... |
ORPHA:567 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Neutropenia, Anemia, Th... |
ORPHA:508542 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
Smith-Lemli-Opitz Syndrome |
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Elevated 7-dehydrocholesterol, Atrial septal defect, Splenomegaly, Self-mutilation, Ventricular s... |
OMIM:270400 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Steinert Myotonic Dystrophy |
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Cognitive impairment, Mental deterioration, Anxiety, Dilated cardiomyopathy, Aggressive behavior,... |
ORPHA:273 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
Sandhoff Disease |
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Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle response, Cardiome... |
OMIM:268800 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Tropical Endomyocardial Fibrosis |
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Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinophilia, Endocar... |
ORPHA:75565 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
Juvenile Polyposis Syndrome |
|