| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
| Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
| Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... |
OMIM:607850 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... |
OMIM:613673 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints |
ORPHA:50809 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis |
OMIM:216950 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... |
OMIM:616963 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly |
OMIM:613977 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... |
OMIM:105835 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
| Kienbock Disease |
|
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis |
ORPHA:97332 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... |
OMIM:613501 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Prote... |
OMIM:616026 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugate... |
OMIM:613280 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... |
ORPHA:2088 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:613493 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypophosphatemia, Hypercalciuria, P... |
OMIM:239200 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... |
OMIM:208250 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... |
ORPHA:90041 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, ... |
ORPHA:94086 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... |
OMIM:619743 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Postprandial hyperglycemia, Ketonuria, Beta 2-microglobu... |
OMIM:227810 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:613502 |
| Immunodeficiency 112 |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... |
OMIM:620449 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria |
OMIM:612286 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets |
OMIM:193100 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, ... |
ORPHA:848 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H... |
OMIM:605911 |
| Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... |
ORPHA:1416 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hypokalemia, Hyponatre... |
ORPHA:31824 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... |
ORPHA:157215 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections |
OMIM:612692 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... |
ORPHA:85435 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... |
OMIM:618892 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:612653 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... |
ORPHA:213 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypochromic anemia, Cardiomyopathy, Leukocytosis, Hypocalcemia, Spleno... |
ORPHA:289157 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... |
OMIM:611590 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures |
ORPHA:2239 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... |
OMIM:241530 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemic rickets, Renal tubular dysfunction,... |
OMIM:307800 |
| Pearson Syndrome |
|
Pancytopenia, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormal heart mor... |
ORPHA:699 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
| Livedoid Vasculopathy |
|
Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leukocytosis, Hyperhomocyst... |
ORPHA:542643 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:182900 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... |
OMIM:600740 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... |
OMIM:266200 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Proteinuria, Car... |
OMIM:618886 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Splenomegaly, Thrombocytosis, Hepatomegaly, Pericardial effusion, Di... |
ORPHA:2905 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... |
ORPHA:309854 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... |
ORPHA:469 |
| Congenital Toxoplasmosis |
|
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis |
OMIM:609939 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Nephritis, Nephrocalcinosis, Stage 5 chronic kidney disease, Renal insufficiency, Hematuria, Prot... |
OMIM:104200 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... |
ORPHA:54057 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... |
ORPHA:85410 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... |
ORPHA:276 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:607594 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... |
OMIM:219800 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Hepatomegaly |
ORPHA:729 |
| Mody |
|
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy... |
ORPHA:552 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
| Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:200400 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:94059 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Conjugated ... |
OMIM:269920 |
| Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231222 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria |
OMIM:264700 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Increased circulating ferritin concentration... |
OMIM:194380 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... |
OMIM:212140 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Nephrolithiasis |
ORPHA:93160 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Down Syndrome |
|
Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ... |
ORPHA:870 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu... |
OMIM:152700 |
| Cranio-Osteoarthropathy |
|
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... |
ORPHA:1525 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Polycythemia, Hyperbilirubinemia, Perimembranou... |
OMIM:606812 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Renal insufficiency, Splenomegaly, Leuk... |
OMIM:603903 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... |
OMIM:300653 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia |
ORPHA:352540 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
| Immunodeficiency 115 With Autoinflammation |
|
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis |
OMIM:620632 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericar... |
OMIM:614702 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hype... |
OMIM:229600 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... |
ORPHA:85414 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... |
ORPHA:713 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
| Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... |
ORPHA:331235 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Polycythemia, Hypoglycemia, Hypertrophic cardiomyopathy, Vesicoureter... |
ORPHA:116 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Immunodeficiency 67 |
|
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... |
OMIM:612783 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Urinary retention, Hypomagnesemia, Decreased ur... |
ORPHA:79102 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... |
ORPHA:94093 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Hyperbilirubinemia, Patent foramen ovale, Ventricula... |
OMIM:300855 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
| Ziegler-Huang Syndrome |
|
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... |
ORPHA:405 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind... |
OMIM:232800 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... |
OMIM:106300 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... |
OMIM:180300 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Pancytopenia, Hyperphosphaturia, Renal tubular dysfunction, Hypophosphat... |
ORPHA:562 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ... |
ORPHA:667 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Elev... |
ORPHA:42 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:48377 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,... |
ORPHA:288 |
| Von Hippel-Lindau Syndrome |
|
Multiple renal cysts, Polycythemia |
OMIM:193300 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy... |
OMIM:201475 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Hyperammonemi... |
OMIM:255120 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf... |
ORPHA:534 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias |
OMIM:250790 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... |
ORPHA:822 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231214 |
| Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... |
ORPHA:94089 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... |
ORPHA:85408 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia |
OMIM:619064 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly |
ORPHA:99931 |
| Pseudohypoparathyroidism, Type Ic |
|
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia, Hy... |
OMIM:612462 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... |
OMIM:300280 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... |
OMIM:274150 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... |
OMIM:211900 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephrolithiasis, Renal cyst, Hypophosphat... |
ORPHA:99880 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Hyperammonemia, Ventricular ... |
OMIM:620609 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephrolithiasis, Renal cyst, Hypophosphat... |
ORPHA:143 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... |
OMIM:616005 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Diabetes mellitus |
ORPHA:249 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Elevated urinary catecholamine level, Multiple renal cysts, Myocard... |
ORPHA:892 |
| Raine Syndrome |
|
Hydronephrosis, Hypophosphatemia, Hydroureter |
OMIM:259775 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Cardio... |
ORPHA:465508 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine ... |
OMIM:608836 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
| Pseudohypoparathyroidism, Type Ia |
|
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Abnormal concentration o... |
ORPHA:391428 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis |
OMIM:617994 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... |
OMIM:606367 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Myoglobinuria,... |
ORPHA:423 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial... |
OMIM:308230 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... |
ORPHA:340 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... |
ORPHA:331206 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Hypospadias, HbH hemoglobin |
ORPHA:98791 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, A... |
OMIM:260400 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F |
OMIM:619769 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Hydroxyprolinemia, Hypercalciuria, Increased... |
OMIM:239000 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections |
OMIM:300291 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... |
OMIM:266500 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Normocytic anemia, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ... |
ORPHA:91500 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Sever... |
OMIM:615816 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Abn... |
ORPHA:289176 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
ORPHA:100026 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Hyper... |
OMIM:276700 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
ORPHA:90038 |
| Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
| Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,... |
ORPHA:2968 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria |
ORPHA:89936 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612924 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Recurr... |
ORPHA:443811 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Recu... |
ORPHA:221139 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Lead Poisoning |
|
Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration,... |
ORPHA:330015 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Ventricular septal defect, Hydronephrosis, Cardiomegaly, El... |
OMIM:614921 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:608013 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... |
ORPHA:466650 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... |
ORPHA:589 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... |
ORPHA:79444 |
| Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... |
ORPHA:99867 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... |
OMIM:608233 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... |
ORPHA:79330 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular se... |
OMIM:602782 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:620565 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia |
OMIM:101800 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... |
OMIM:105650 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... |
OMIM:620306 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Ventricular septal defect, Hydronephrosis, Perimembranous ventricular septal defe... |
OMIM:301040 |
| Overlap Myositis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... |
ORPHA:206572 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... |
OMIM:232300 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fun... |
OMIM:102700 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... |
OMIM:612541 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a... |
ORPHA:227990 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... |
ORPHA:79443 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... |
OMIM:619991 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi... |
ORPHA:227982 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... |
OMIM:607944 |
| Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections |
ORPHA:244 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Chédiak-Higashi Syndrome |
|
Recurrent streptococcal infections, Recurrent respiratory infections, Recurrent bacterial infecti... |
ORPHA:167 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... |
ORPHA:51636 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Anemia, Car... |
OMIM:620376 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... |
ORPHA:308552 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... |
ORPHA:79128 |
| Congenital Erythropoietic Porphyria |
|
Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Abnormal circulatin... |
ORPHA:79277 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Polycythemia |
OMIM:600376 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent fungal infections, Recur... |
OMIM:242840 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy, Elevated circulating creatine kinase c... |
ORPHA:268 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Fucosidosis |
|
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc... |
OMIM:230000 |
| Hereditary Xanthinuria |
|
Rheumatoid arthritis, Gout, Arthropathy |
ORPHA:3467 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Alkaptonuria |
|
Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... |
ORPHA:56 |
| Chediak-Higashi Syndrome |
|
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections |
OMIM:214500 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... |
ORPHA:49041 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Polycythemia |
OMIM:187300 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... |
OMIM:619573 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc... |
OMIM:252500 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... |
ORPHA:581 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Hypertriglyceridemia, Cardiomegaly, Hepatomegaly, Thrombocytopen... |
OMIM:256040 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Tetralogy of Fallot, H... |
OMIM:600001 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... |
ORPHA:51 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... |
ORPHA:99826 |
| Histiocytoid Cardiomyopathy |
|
Hypoglycemia, Ventricular septal defect, Cardiomegaly, Renal cyst, Hepatomegaly |
ORPHA:137675 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Sepsis |
ORPHA:811 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Williams Syndrome |
|
Type II diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:904 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... |
ORPHA:365 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Splenic cyst, Patent foramen ovale |
OMIM:620371 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... |
ORPHA:3472 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... |
ORPHA:51608 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
