Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:613501 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio... |
OMIM:616860 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... |
OMIM:616050 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... |
OMIM:209950 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Leishmaniasis |
|
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... |
ORPHA:507 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections |
OMIM:615214 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Diabetes mellitus, Hy... |
OMIM:612526 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:606843 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... |
ORPHA:2298 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... |
OMIM:246700 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... |
ORPHA:2070 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... |
OMIM:601495 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... |
ORPHA:398063 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
Nephrotic Syndrome, Type 14 |
|
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... |
OMIM:193670 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... |
OMIM:613101 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... |
OMIM:616828 |
Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... |
OMIM:603553 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... |
OMIM:615285 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... |
ORPHA:79237 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... |
OMIM:240500 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypert... |
OMIM:606721 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Small ... |
ORPHA:275555 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Hypoglycemia |
ORPHA:67048 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... |
ORPHA:64743 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Ménétrier Disease |
|
Hypoproteinemia, Weight loss, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... |
ORPHA:292 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Failure to thrive |
OMIM:614727 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Increas... |
OMIM:606069 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Spl... |
ORPHA:231226 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... |
OMIM:607594 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Wolfram Syndrome, Mitochondrial Form |
|
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia |
OMIM:598500 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Hypoglycemia, Failure to thrive |
OMIM:610090 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Ketotic hypogly... |
ORPHA:79240 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Diabetes mell... |
OMIM:613845 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Failure to thrive, Hypoalbuminemia |
ORPHA:79320 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... |
ORPHA:90362 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... |
ORPHA:103910 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia |
ORPHA:254531 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Fai... |
OMIM:278000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Mat... |
ORPHA:324575 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia... |
ORPHA:88673 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Failure t... |
ORPHA:264580 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Failure to thrive in infancy |
ORPHA:263501 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Increased red blood cell count, Increased circulating renin level, Hyp... |
ORPHA:90041 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... |
ORPHA:276 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... |
ORPHA:454836 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac... |
ORPHA:101028 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... |
ORPHA:572 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... |
OMIM:603554 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... |
OMIM:613011 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Weight loss, Anemia, Hypoalbuminemia |
ORPHA:67 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Failure to thrive, Abnormal circulating threonine concentration, Abnormal circulati... |
ORPHA:79096 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... |
ORPHA:86816 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... |
ORPHA:37042 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:617303 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Sple... |
ORPHA:370 |
Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia |
ORPHA:446 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus |
ORPHA:49827 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Orotic Aciduria |
|
Hypochromia, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic... |
OMIM:258900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Failure to thrive, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Hypoca... |
ORPHA:83471 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Stormorken Syndrome |
|
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... |
OMIM:185070 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Rhabdoid Tumor |
|
Thrombocytopenia, Weight loss, Hypercalcemia, Anemia |
ORPHA:69077 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... |
OMIM:619055 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Failure to thrive, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceride... |
ORPHA:528 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia |
ORPHA:289916 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Thrombocytosis, Failure to thrive, Hypoalbuminemia |
OMIM:212065 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Hyperammonemia, Thrombocytopenia |
ORPHA:27 |
Propionic Acidemia |
|
Hypoglycemia, Neutropenia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopen... |
OMIM:606054 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... |
ORPHA:14 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Failure to thrive, Elevated creatine kinase after exercise, Elevated circulatin... |
ORPHA:99901 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... |
OMIM:618278 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618839 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Severe cytomegalovirus infection... |
OMIM:300291 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... |
OMIM:616005 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Diabetes mellitus, Sideroblastic anemia |
OMIM:249270 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia |
OMIM:616740 |
Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... |
ORPHA:84064 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss, Anemia, Hepatosplenomegaly, Hypoalbuminemia, Hemolytic anemia |
OMIM:619487 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
ORPHA:96184 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Failure to thrive, Recurrent hypoglycemia, ... |
ORPHA:79324 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal circulating selen... |
ORPHA:89842 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... |
ORPHA:88618 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Al Amyloidosis |
|
Weight loss, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbu... |
ORPHA:85443 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Overlap Myositis |
|
Leukopenia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid concen... |
ORPHA:206572 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hyperalaninemia, Hypoglycemia, Hypoalbuminemia |
OMIM:618329 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:144600 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration |
ORPHA:210136 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Congenital Rubella Syndrome |
|
Thrombocytopenia, Anemia, Type I diabetes mellitus, Splenomegaly |
ORPHA:290 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:367 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal gluco... |
ORPHA:391673 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia |
OMIM:614857 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Abnormal circulating leucine concentration, Hypoglycemia, Hyperammo... |
ORPHA:6 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Overweight |
ORPHA:401923 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... |
OMIM:251110 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... |
OMIM:304790 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp... |
ORPHA:79277 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Leukopenia, Failure to thrive, Hyperglycinemia, Hyperammonemia, Thrombocy... |
OMIM:251000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypoglycemia, Failure to thrive |
OMIM:617872 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age |
OMIM:619278 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... |
ORPHA:331235 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... |
OMIM:615160 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypoglycemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, El... |
ORPHA:99826 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
Amed Syndrome, Digenic |
|
Leukopenia, Failure to thrive, Anemia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration |
OMIM:618886 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circ... |
OMIM:619644 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... |
OMIM:251100 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, Abnormality of neutr... |
ORPHA:229717 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia |
OMIM:232400 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Thrombocytopenia |
OMIM:618048 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Decreased body weight, Splenomegaly |
OMIM:231000 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytopenia |
ORPHA:505248 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia |
OMIM:617475 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Normochromic anemia, Small ... |
OMIM:618775 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia, Hypoalbuminemia |
ORPHA:79076 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, Slen... |
OMIM:613658 |
Babesiosis |
|
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly |
ORPHA:108 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Anemia, Hypoalbuminemia |
ORPHA:79396 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Failure to thrive, Me... |
OMIM:277380 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Weight loss, Hyperammonemia |
ORPHA:79242 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:610333 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Decr... |
OMIM:617053 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... |
ORPHA:90363 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Increased circu... |
OMIM:613179 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesi... |
OMIM:259720 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Wolfram Syndrome 1 |
|
Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus, Sideroblastic anemia |
OMIM:222300 |
Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:47 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... |
ORPHA:331206 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Anemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine |
OMIM:246450 |
Lysinuric Protein Intolerance |
|
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... |
ORPHA:470 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... |
OMIM:610377 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia |
OMIM:618120 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Hypoglycemia, Large for gestational age |
OMIM:616638 |
Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:308230 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... |
OMIM:601399 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... |
ORPHA:231214 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Failure to thrive, Splenomegaly, Hypercholesterolemia, Accessory s... |
OMIM:300972 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Hypoglycemia |
OMIM:611126 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Obesity, Diabetes mellitus, Overweight |