| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Abnormality of... |
OMIM:155100 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
| Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal i... |
ORPHA:182050 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
| Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrhosis, Ele... |
OMIM:178500 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... |
ORPHA:238459 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Pulmonary fibros... |
OMIM:614743 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Idiopathic Pulmonary Fibrosis |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary fibrosis, R... |
ORPHA:2032 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Usual interstitial pneumonia, Bone ma... |
OMIM:614742 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil coun... |
ORPHA:3226 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... |
OMIM:607616 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p... |
OMIM:612387 |
| Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Pericarditis, Recurrent respiratory infections,... |
ORPHA:47612 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio... |
ORPHA:64743 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl... |
ORPHA:60026 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... |
OMIM:619644 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Pericarditi... |
ORPHA:809 |
| Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... |
ORPHA:274 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... |
OMIM:618394 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia... |
OMIM:610539 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Microcytic anemia, Pulmonary ... |
ORPHA:90308 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Thrombocyt... |
OMIM:226990 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno... |
ORPHA:79124 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagia, Pulmonary fibrosis, Br... |
OMIM:614073 |
| Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fi... |
OMIM:613989 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... |
ORPHA:79126 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve... |
ORPHA:98813 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly |
ORPHA:1980 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil... |
OMIM:131400 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia ... |
ORPHA:75564 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... |
OMIM:618913 |
| Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa... |
OMIM:606003 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Asbestos Intoxication |
|
Right ventricular failure, Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Cor pulm... |
ORPHA:2302 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Abnormal pulmonary interstiti... |
OMIM:230800 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholesta... |
OMIM:619858 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circulating IgE level,... |
OMIM:147060 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Hepatic f... |
OMIM:617341 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmon... |
ORPHA:638 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Hepatomegaly, Reduced natural killer cel... |
OMIM:608233 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
| Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, A... |
ORPHA:98826 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Re... |
ORPHA:133 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Hematuria, Anemia, Pulmonary venous hypertension, Pulmonary fibrosis, ... |
ORPHA:90060 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Portal fibrosis, Hepati... |
OMIM:619111 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
| Aspergillosis |
|
Eosinophilia, Abnormality of the kidney, Pneumonia, Hypersensitivity pneumonitis, Increased circu... |
ORPHA:1163 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... |
OMIM:618955 |
| Transaldolase Deficiency |
|
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Telangiectasia, Biventricular hypertrophy,... |
ORPHA:101028 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib... |
OMIM:232400 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Abnormality of the liver, Hepatomegaly, Abnormal EKG, Abnormality of the kid... |
ORPHA:85443 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Increased circulating IgE level, Eosinophilia, Craniosynostosis |
OMIM:618523 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating total IgM... |
OMIM:619510 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Bone marrow hypocellularity, Pulmonary fibrosis |
OMIM:618674 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Nephrotic syndrome, Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated hepati... |
ORPHA:398124 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Hemochromatosis, Neonatal |
|
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... |
OMIM:231100 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice |
ORPHA:446 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... |
ORPHA:220402 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Increased circulating IgA level, Follicular hyperplasia, Raynau... |
OMIM:615934 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Gingival b... |
OMIM:203300 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... |
ORPHA:277 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Jaundic... |
ORPHA:108 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci... |
OMIM:619752 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep... |
OMIM:301000 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... |
OMIM:619463 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean c... |
OMIM:127550 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Subcutaneous hemorrhage, Proteinuria, Macrothrombocytopenia, Aminoaciduria,... |
OMIM:603585 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... |
OMIM:159550 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia |
OMIM:314000 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Pulmonary fibros... |
OMIM:619767 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
| Q Fever |
|
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomegaly, Perica... |
ORPHA:781 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Increased circulating IgE level, Scarring |
ORPHA:89843 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Arthritis, Co... |
OMIM:304790 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia |
OMIM:615010 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hypertens... |
OMIM:619487 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Hypertension, Internal... |
ORPHA:69077 |
| Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Thrombocy... |
ORPHA:91547 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephr... |
OMIM:616414 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtration rate, A... |
ORPHA:470 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Mediastinal lymphadenopathy, Respirat... |
ORPHA:79128 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory i... |
OMIM:618278 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertension |
ORPHA:280356 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,... |
OMIM:224230 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated c... |
OMIM:615895 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm... |
ORPHA:99745 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
| Scedosporiosis |
|
Pericarditis, Pneumonia, Bronchitis, Abnormal renal morphology, Endocarditis, Pleural empyema, Pu... |
ORPHA:449280 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Pulmonary fibrosis |
OMIM:615704 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... |
OMIM:610913 |
| Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... |
OMIM:214500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... |
ORPHA:79312 |
| Necrobiosis Lipoidica |
|
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... |
ORPHA:167 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl... |
ORPHA:171 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Atelectasis, Pulmonary fibrosis, Bronchiolitis |
ORPHA:254361 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, H... |
OMIM:602579 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... |
OMIM:618165 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... |
OMIM:613990 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Braddock Syndrome |
|
Pulmonary arterial hypertension, Pulmonary fibrosis, Unilateral renal agenesis |
ORPHA:52047 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Increased circulating IgE level, Increased circulating Ig... |
OMIM:615816 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Glomerulopathy, Ureteral stenosis, Vasculitis, Pulmonary fibrosis, Renal insuffic... |
ORPHA:900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Pulmonary fibrosis, Myocardial infarction |
ORPHA:457240 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
| Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... |
ORPHA:81 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Gaucher Disease |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Abnormal ... |
ORPHA:355 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Congesti... |
ORPHA:35687 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Pleuritis, Nephritis, Thrombocytopenia |
OMIM:152700 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Splenomegaly, ... |
ORPHA:464329 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Abnormality of the kidney, Raynaud phenomenon, Abnormal pulmonary ... |
ORPHA:206572 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular... |
ORPHA:420741 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Mitral valve calcifica... |
ORPHA:77261 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... |
ORPHA:848 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Ri... |
ORPHA:90291 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... |
ORPHA:521406 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Dilated cardiomyopathy... |
ORPHA:79230 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Perica... |
OMIM:181000 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Ren... |
OMIM:212065 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Elevated hepatic t... |
ORPHA:507 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... |
ORPHA:264580 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... |
ORPHA:79319 |
| Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal... |
ORPHA:79329 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Petechiae, Cervical lymphadenopathy, Vasculit... |
ORPHA:83313 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circula... |
ORPHA:2314 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Decreased circulating complement C3 concentratio... |
OMIM:301080 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thr... |
ORPHA:858 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary fi... |
ORPHA:220393 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Atrial septal defect, Ven... |
OMIM:208085 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, C... |
ORPHA:49827 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Cardiomyopathy, Pancrea... |
ORPHA:27 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardio... |
OMIM:201475 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas... |
OMIM:612284 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... |
OMIM:263000 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Eosinophilia, Increased circulating IgE level, Joint hypermobility, Decreased circ... |
OMIM:618282 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... |
ORPHA:49566 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Pulmonary fibrosis |
OMIM:612852 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp... |
ORPHA:2072 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Recurrent respiratory infections, Pulmonary fibrosis, Abnormality of the bladder |
ORPHA:1839 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... |
OMIM:615952 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Tularemia |
|
Brain abscess, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ... |
ORPHA:3392 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn... |
OMIM:614727 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormality of th... |
ORPHA:79430 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platel... |
OMIM:222470 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Atelectasis, E... |
OMIM:610978 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Nephrocal... |
ORPHA:797 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Decre... |
OMIM:615758 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splenomegaly, An... |
OMIM:616050 |
| Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Hypoplasia of penis, Renal insufficiency, Displacement of the urethr... |
ORPHA:2377 |
| Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Right ve... |
ORPHA:97287 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus, Thrombocytopenia |
ORPHA:3327 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... |
ORPHA:289916 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of the tonsi... |
ORPHA:229717 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Poor gros... |
ORPHA:330015 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Pulmonary fibrosis, Sea-blue histio... |
OMIM:607625 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Mitral valve calcification, Bronchitis, Right ventricular ... |
ORPHA:60025 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leuk... |
OMIM:251000 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort... |
OMIM:618624 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukoc... |
ORPHA:292 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Ri... |
OMIM:620233 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:99828 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid... |
OMIM:170100 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Atrial septal defect, Hypospadias, Ventricular septal defect, R... |
ORPHA:209905 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ventricular septal ... |
OMIM:614576 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal defect, Nephritis, Hepat... |
OMIM:617303 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Hypertonia, Spastic tetraplegia, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial sept... |
OMIM:617397 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Pulmonary fibro... |
OMIM:612199 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... |
ORPHA:290 |
| Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... |
ORPHA:333 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hep... |
OMIM:619013 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
| Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Flexion contracture, Thrombocytopenia, Increased circulating interferon-gamma concent... |
OMIM:612952 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612926 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Thrombocytopen... |
ORPHA:540 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Arthritis, Pannic... |
OMIM:617591 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... |
ORPHA:331206 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome, Hypertension, Hepatic fibr... |
ORPHA:110 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... |
OMIM:612924 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure, Tubulointers... |
OMIM:232500 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Pol... |
OMIM:263210 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
| Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Glom... |
ORPHA:2968 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... |
OMIM:208500 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arth... |
ORPHA:37748 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestiv... |
OMIM:611126 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulating IgG level, Defec... |
OMIM:618213 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis |
OMIM:260570 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensio... |
OMIM:212350 |
| Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia |
OMIM:274240 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Aortic regurgitation, Epistaxi... |
ORPHA:99147 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Bleeding requiring red cell transfusion, Intrahepatic cholestasis,... |
OMIM:619484 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-positive T cel... |
ORPHA:508533 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Bronchiecta... |
OMIM:616576 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Renal tubular ... |
ORPHA:79240 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Me... |
ORPHA:35858 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyp... |
OMIM:606054 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Neurogenic bladder, Impaired collagen-in... |
OMIM:604928 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Biliary ... |
ORPHA:186 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt... |
ORPHA:275761 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... |
ORPHA:221 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... |
OMIM:615559 |
| Brucellosis |
|
Liver abscess, Bronchitis, Leukopenia, Increased circulating IgG level, Abnormality of the liver,... |
ORPHA:1304 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... |
ORPHA:464343 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Pericardial effusion, Thrombocytopenia, Hematuria, Prolonged QTc interva... |
ORPHA:231111 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Acute Lung Injury |
|
Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitia... |
ORPHA:178320 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Recurrent pn... |
OMIM:300755 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... |
ORPHA:244 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... |
OMIM:619611 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic microcytic anemia, Osteop... |
ORPHA:3240 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper... |
OMIM:235400 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Hepatomegaly, Elevated hepatic transaminase, Acanthocytosis, ... |
ORPHA:14 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thrombocytop... |
OMIM:620184 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia, Amelogene... |
OMIM:617475 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta... |
OMIM:619377 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Abnormal heart valve morphology, Congestive heart failure, Cervical ly... |
ORPHA:2331 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid... |
OMIM:614091 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Hepatic fibrosis, Pulmonary hypoplas... |
OMIM:619879 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... |
OMIM:617093 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Bronchitis, Leukopenia, Tubulointerstitial nephritis... |
ORPHA:289390 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea |
OMIM:607748 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... |
ORPHA:50918 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Cervical lymphadenopathy, Peri... |
ORPHA:2686 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormal lung morphology, Abno... |
ORPHA:47 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
| Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia |
ORPHA:621 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... |
OMIM:259700 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymph... |
ORPHA:454831 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Aceruloplasminemia |
|
Refractory anemia, Congestive heart failure, Abnormal pancreas morphology, Hypochromic microcytic... |
ORPHA:48818 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Urethral stenosis, Horseshoe kidney,... |
OMIM:305000 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ... |
ORPHA:263501 |
| Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... |
OMIM:614700 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:36426 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Pericardial effusion, Lymphaden... |
ORPHA:93552 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m... |
ORPHA:101096 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaund... |
ORPHA:90051 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho... |
OMIM:227650 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Increased circulating Ig... |
ORPHA:206594 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Thrombocytopenia... |
OMIM:617710 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated h... |
OMIM:276700 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... |
OMIM:600901 |
| Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary interstitial morpho... |
ORPHA:206569 |
| Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Recurrent respiratory infections, Cholangitis, Pancreatic cys... |
OMIM:266920 |
| Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical hernia |
ORPHA:87876 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le... |
ORPHA:99827 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi... |
OMIM:251290 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Iron deficiency anemia, Steatorrhea, Thrombocyt... |
OMIM:212750 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, ... |
OMIM:603553 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Normochromic anemia, Neutropenia, Atrial septal defect, Pulmonary arteria... |
OMIM:614857 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Hydr... |
OMIM:222300 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Pulmonary... |
OMIM:301056 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... |
ORPHA:217563 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... |
OMIM:613839 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged prothromb... |
OMIM:616271 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... |
OMIM:241200 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Abnormal immunoglobuli... |
OMIM:242900 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Increased circulating antibody level, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hy... |
ORPHA:77293 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... |
ORPHA:227990 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary interstitial mor... |
OMIM:617050 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Vasculitis, Cardiomyopathy,... |
OMIM:225750 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
| Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
| Donohue Syndrome |
|
Long penis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Abscess, Glomerulone... |
ORPHA:36234 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia... |
ORPHA:319218 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Lympha... |
OMIM:617718 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Yellow Fever |
|
Anuria, Internal hemorrhage, Abnormal bleeding, Neutrophilia, Elevated circulating aspartate amin... |
ORPHA:99829 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Atrial septal defect, Decreased circulating IgG level, Patent foramen ovale, Tricuspi... |
ORPHA:505248 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Increased ... |
ORPHA:37042 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Microscopic hematuria, Excessive bleed... |
ORPHA:319213 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro... |
OMIM:616483 |
| Shigellosis |
|
Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Urethritis... |
ORPHA:810 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:247585 |
| Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... |
OMIM:210000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Avian Influenza |
|
Elevated hepatic transaminase, Lymphopenia, Pneumonia, Congestive heart failure, Pneumothorax, He... |
ORPHA:454836 |
| 46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:537 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
| Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Bronchiectasis, Urethral stenosis |
OMIM:613075 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... |
ORPHA:227982 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Jaundice, Congest... |
ORPHA:525731 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Achilles tendon con... |
OMIM:617013 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Atrophic scars, Hemiplegia, Lymphopenia |
OMIM:182410 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Abn... |
ORPHA:93160 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial sep... |
OMIM:610733 |
| Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spast... |
OMIM:300055 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Rickets, Osteomalacia |
ORPHA:89937 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmon... |
OMIM:263520 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol... |
ORPHA:2330 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Paraproteinemia, Flexion contracture |
ORPHA:171442 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Impaired T cell function, Pure red cell aplasia, Autoimmune ... |
OMIM:613179 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Petechiae, Hypospadias, Thrombocytopenia, Intracranial hemorr... |
OMIM:617053 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Hematemesis... |
OMIM:615846 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Hepa... |
ORPHA:79328 |
| Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Abnormal pleura morpholog... |
ORPHA:29207 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... |
OMIM:260400 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the kidney, Pneumonia, Abnormality of the spleen, Per... |
ORPHA:228119 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Clonus, Splenomegaly,... |
OMIM:259720 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ventricular septal defect, Ectopic ki... |
OMIM:227645 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, H... |
OMIM:208920 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Lipoid pneumonia |
OMIM:620326 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Functional ab... |
ORPHA:391487 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Annular pancreas, Ret... |
OMIM:227646 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... |
ORPHA:765 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Anemia, Perimembranous ventricular septal defect, Decreased liver func... |
OMIM:608104 |
| Ddost-Cdg |
|
Osteopenia, Oromotor apraxia, Lipodystrophy, Tremor |
ORPHA:300536 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Hypocholesterolemia, Rickets, Steatorrhea |
OMIM:607765 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Intraalveolar phospholipid accumulati... |
OMIM:222700 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Methylmalonic a... |
OMIM:277380 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial f... |
ORPHA:79259 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia |
OMIM:619980 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... |
OMIM:266900 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Telangiectasia, Acute lymphoblastic leukemia, Mic... |
OMIM:606593 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Renal hypoplasia, Periportal ... |
OMIM:269860 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... |
ORPHA:99826 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Myoclonus, Ataxia, Rickets |
OMIM:560000 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Babinski ... |
OMIM:128100 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... |
OMIM:619573 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... |
OMIM:617052 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
| Noonan Syndrome |
|
Abnormal bleeding, Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of the spleen, ... |
ORPHA:648 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Pneumonia, Renal hypoplasia, Anemia, Leukopenia, Microphallus, Bone marrow ... |
OMIM:603467 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Thrombocytopenia, Splenomegaly, Abnormal T cell subse... |
ORPHA:158048 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Prolonged proth... |
OMIM:277450 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Lym... |
OMIM:607944 |
| Stt3B-Cdg |
|
Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Biliary tract abnormality, Hypertension, Hepatic fibrosis, Left ventri... |
OMIM:209900 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Recurrent respiratory infections, Bicuspid aortic valve, Malformation of the hepati... |
OMIM:218330 |
| Rift Valley Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Hematemesis, Thrombocytopenia, Jaundice, Retina... |
ORPHA:319251 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Thrombocytopenia |
OMIM:615597 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, Arthritis, B... |
ORPHA:397596 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas... |
OMIM:617941 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Spasticity, Hypertonia, Thrombocytopenia |
OMIM:616577 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... |
ORPHA:509 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati... |
OMIM:610377 |
| Wilson Disease |
|
Hemolytic anemia, Dystonia, Poor motor coordination, Osteomalacia, Joint hypermobility, Tremor, S... |
OMIM:277900 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
| Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:617049 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly, Decreased circulating ... |
ORPHA:79330 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Myoclonus, Thrombocytopenia, In... |
OMIM:254900 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmon... |
OMIM:608013 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Polycys... |
OMIM:311200 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... |
OMIM:251100 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia, Arthritis |
ORPHA:448237 |
| Noonan Syndrome 9 |
|
Prolonged prothrombin time, Hydroureter, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Trichinellosis |
|
Hemiplegia, Babinski sign, Increased circulating IgE level, Hemiparesis |
ORPHA:863 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leuko... |
ORPHA:20 |
| Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Chitayat Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617180 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Dystonia, Ataxia, Tremor, Slurred speech, Acute lym... |
OMIM:208900 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopa... |
ORPHA:199241 |
| Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Aplastic anemia, Ventricular septal defect, Abnormal lung lobation, Micropenis, T... |
OMIM:300514 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia ... |
ORPHA:562 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Increased circulating IgA level, Leukocytosis, Increased circulating... |
OMIM:617099 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia |
ORPHA:1303 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Thrombocy... |
ORPHA:3322 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... |
OMIM:207900 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hemogl... |
ORPHA:90038 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... |
OMIM:265120 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... |
ORPHA:564 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
| Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Sclerosis of skull base, Increased... |
ORPHA:2905 |
| D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity, Increased circulating free fatty acid level |
ORPHA:941 |
| Japanese Encephalitis |
|
Neutrophilia, Stiff neck, Weakness due to upper motor neuron dysfunction, Dystonia, Paralysis, Tr... |
ORPHA:79139 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Stiff neck, Incoordination, Paralysis, Tremor, Leukocytosis, Increased circulatin... |
ORPHA:297 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Hypertensive crisis, Pneumonia, Respiratory tract infect... |
ORPHA:544482 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Iron deficiency anemia, Steatorrhea |
ORPHA:309031 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... |
ORPHA:99867 |
| C3 Glomerulopathy |
|
Lipodystrophy, Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circ... |
ORPHA:329918 |
| Smith-Kingsmore Syndrome |
|
Umbilical hernia, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... |
ORPHA:79282 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Axial malrotatio... |
ORPHA:3320 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate ex... |
OMIM:615273 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Limb ataxia, Joint hypermobility, Truncal ataxia |
OMIM:617101 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Ventricular septal de... |
ORPHA:124 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Incre... |
OMIM:606002 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:264700 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... |
ORPHA:1775 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:277440 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dicarboxylic aciduri... |
ORPHA:71212 |
| Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common... |
ORPHA:96168 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Portal hypertens... |
OMIM:613658 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... |
ORPHA:373 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Heart murmur, Intracranial hemorrhage... |
ORPHA:163979 |
| Mednik Syndrome |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets |
OMIM:307800 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, High urinary gonadot... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, High urinary gonadot... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, High urinary gonadot... |
ORPHA:99226 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Prolonged QT interval, Bicuspid aortic valve, High urinary gonadot... |
ORPHA:881 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Shock, Jaundice, H... |
ORPHA:90062 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Left ventri... |
OMIM:611209 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormal cardiac septum m... |
OMIM:616737 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia |
OMIM:230900 |
| Pyoderma Gangrenosum |
|
Atrophic scars, Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48104 |
| Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Chol... |
ORPHA:3166 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia |
OMIM:612561 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Limb dystonia, Thrombocytopenia, Limb ... |
ORPHA:572798 |
| Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased circulating in... |
OMIM:256040 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... |
OMIM:619743 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Vexas Syndrome |
|
Macrocytic anemia, Arteritis, Thrombocytopenia |
OMIM:301054 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Limb joint contracture, Postural tremor, Splenomegaly, Flexion contracture, Babinski sign... |
OMIM:301072 |
| Congenital Analbuminemia |
|
Hypercholesterolemia, Hyperlipidemia, Lipodystrophy, Increased circulating antibody level |
ORPHA:86816 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Enlarged tonsils, Proximal renal tubular acidosis, Nephrolithiasis, A... |
ORPHA:2785 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct... |
OMIM:618329 |
| Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Bladde... |
ORPHA:287 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Clonus, Spastic tetraparesis, Babinski sign, HbH hemoglobin, Limb hypertonia |
ORPHA:423479 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux... |
ORPHA:567 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Atrial septal defect, Ventricular septal defect, Eosinop... |
OMIM:274000 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Rickets |
ORPHA:2088 |
| Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... |
ORPHA:29073 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
| Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul... |
ORPHA:261250 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Prolonged prothrombin time, Abnormality of the liv... |
ORPHA:88618 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Hypotension, Mastocytosis, Arrhythmia |
ORPHA:2135 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Flexion contr... |
ORPHA:99027 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hema... |
ORPHA:536 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Portal ... |
OMIM:243800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dys... |
OMIM:251260 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Cystinosis |
|
Rickets, Abnormal pyramidal sign |
ORPHA:213 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Papa Syndrome |
|
Arthritis, Limitation of joint mobility, Increased circulating antibody level |
ORPHA:69126 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatomegaly, Ketonuria, Increased urinary glycer... |
ORPHA:247598 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Extrapyramidal muscular rigidity, Dystonia, Neonatal al... |
ORPHA:51 |
| Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... |
ORPHA:74 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Oliguria, Decreased liver function, ... |
ORPHA:466650 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Arthrogryposi... |
ORPHA:2671 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p... |
ORPHA:331235 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... |
ORPHA:64 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T... |
OMIM:253270 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduce... |
ORPHA:18 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
| Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
| Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Micropenis, T... |
OMIM:619005 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Trichothiodystrophy 3, Photosensitive |
|
Hypertonia, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
| Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic stenosis, Thrombocytopenia |
OMIM:620185 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Ventricular septal defect, Abnormal renal mo... |
OMIM:122470 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Tachycardia, Crazy paving pattern |
ORPHA:264675 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Anemia |
OMIM:620370 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb hypertonia, Spasticity, Thrombocytopenia, Limb dystonia |
ORPHA:457351 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia... |
OMIM:615512 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormality of the lympha... |
ORPHA:487796 |
| Encephalitis Lethargica |
|
Tremor, Stiff neck, Increased circulating antibody level, Parkinsonism |
ORPHA:83600 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Proteinuria, Angina pectoris, Pericardial effusion, ... |
ORPHA:79318 |
| Alveolar Echinococcosis |
|
Ataxia, Eosinophilia, Bone cyst, Hemiparesis, Abnormal spleen morphology, Increased circulating a... |
ORPHA:284 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia |
OMIM:619769 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
| Insulin-Resistance Syndrome Type B |
|
Proteinuria, Pneumonia, Increased circulating IgA level, Biliary cirrhosis, Leukopenia, Increased... |
ORPHA:2298 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Limitation of joint mobility, Ataxia, Increased circulating IgA level |
ORPHA:343 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Impaired T cell function, Unilat... |
OMIM:188400 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Aortic... |
ORPHA:2308 |
| Viss Syndrome |
|
Joint laxity, Inguinal hernia, Generalized joint laxity, Increased circulating IgE level, Hypereo... |
OMIM:619472 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Joint stiffness, Spastic paraplegia, Flexion contracture, Anemia |
ORPHA:847 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Atrial septal defect, A... |
OMIM:147791 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia |
OMIM:227810 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Arthritis |
ORPHA:2137 |
| Cystic Echinococcosis |
|
Bone cyst, Increased circulating antibody level, Eosinophilia, Splenic cyst |
ORPHA:400 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... |
OMIM:233450 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Thrombocytopenia, Anemia |
ORPHA:261323 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti... |
OMIM:614748 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Nodular regenerati... |
ORPHA:404454 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Micropenis, T... |
OMIM:619004 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
| Dubowitz Syndrome |
|
Hypospadias, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Hydronephrosis, Th... |
ORPHA:235 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Iga Pemphigus |
|
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia, Spasticity, ... |
OMIM:301040 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Ar... |
OMIM:260920 |
| Osteogenesis Imperfecta |
|
Osteopenia, Inguinal hernia, Ataxia, Recurrent fractures, Joint hypermobility, Abnormal dental en... |
ORPHA:666 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Rickets, Corneal scarring, Keloids, Hypercholesterolemia, ... |
OMIM:309000 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypoplasia, Renal... |
ORPHA:93271 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... |
ORPHA:79078 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia |
ORPHA:439232 |
| Cryptococcosis |
|
Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Per... |
ORPHA:1546 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadia... |
OMIM:163950 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos... |
ORPHA:3103 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Rigidity, Osteoporosis, Rickets, Hyperto... |
ORPHA:2636 |
| Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical scarring of skin, In... |
ORPHA:228123 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria |
OMIM:619055 |
| Gapo Syndrome |
|
Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Pneumothorax... |
ORPHA:99921 |
| Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time, Oroticaciduria, Elevated circulating aspartate aminotransferase conce... |
OMIM:311250 |
| Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:618458 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
| Cysticercosis |
|
Upper motor neuron dysfunction, Stiff neck, Increased circulating antibody level, Ataxia |
ORPHA:1560 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Postinfectious Vasculitis |
|
Increased circulating IgA level, Abnormality of humoral immunity, Arthritis, Increased circulatin... |
ORPHA:48435 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |
| Autosomal Recessive Spastic Paraplegia Type 64 |
|
Spasticity |
ORPHA:401810 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Spasticity, Spastic paraplegia |
OMIM:615683 |
