| Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
| Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
| Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Developmental And Epileptic Encephalopathy 56 |
|
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait |
OMIM:617665 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... |
ORPHA:412066 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
| Chorea, Benign Hereditary |
|
Anxiety, Gait disturbance |
OMIM:118700 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression |
OMIM:159900 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... |
ORPHA:401901 |
| Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Anxiety, Depression |
OMIM:605909 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... |
ORPHA:71517 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... |
OMIM:604326 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Anxiety |
OMIM:602066 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
| Dystonia 26, Myoclonic |
|
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ectopia of the spleen, Atrioventricular canal defect, Ventricular septal defect |
OMIM:613751 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... |
OMIM:168605 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
| Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... |
ORPHA:168782 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:858 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis |
OMIM:613313 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... |
ORPHA:615 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... |
OMIM:256550 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia |
OMIM:606324 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy |
ORPHA:85447 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Emotional lability, Diabetes mellitus, Hypothyroidism, Anxiety, Difficulty wa... |
ORPHA:3198 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
| Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope, Abnormal autono... |
ORPHA:441 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... |
ORPHA:93476 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
| Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... |
OMIM:252920 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis |
OMIM:602390 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mi... |
OMIM:306955 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... |
OMIM:618892 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis |
ORPHA:1046 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... |
OMIM:115197 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenomegaly, Cirr... |
OMIM:235200 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroe... |
OMIM:212140 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... |
ORPHA:1414 |
| Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Acute kidney injury, Congenital thrombocytopen... |
OMIM:618886 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis... |
ORPHA:848 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... |
ORPHA:309246 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia, ... |
ORPHA:79312 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia |
ORPHA:56425 |
| 46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Myocardial fibrosis |
OMIM:253250 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Renal tubular acidosis, Hepatomegaly, Hepatic steatosis |
OMIM:255120 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
| Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
| Timothy Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot |
OMIM:601005 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly |
ORPHA:2414 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... |
ORPHA:85451 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis |
ORPHA:99931 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
| Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... |
ORPHA:108 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Exercise-induce... |
OMIM:201475 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:85414 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... |
OMIM:194380 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... |
OMIM:613011 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Patent foramen ovale |
OMIM:618652 |
| Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Hypersplenism, Right atrial enlar... |
OMIM:616028 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... |
OMIM:150550 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... |
ORPHA:290 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
| Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... |
OMIM:606003 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Choles... |
OMIM:615630 |
| Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... |
OMIM:612541 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
| Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Retinal capillar... |
ORPHA:892 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Abnormal renal physiology, A... |
ORPHA:158057 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Hepatic steatosis, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, An... |
ORPHA:77259 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252900 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... |
ORPHA:398124 |
| Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... |
ORPHA:829 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... |
OMIM:300908 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenom... |
ORPHA:465508 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
| Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Lymphadeno... |
OMIM:602782 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
| Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... |
OMIM:618935 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
| Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
| Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
| Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
| Legionnaires Disease |
|
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypoc... |
ORPHA:549 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Ventricular septal defect, Ascites, Car... |
OMIM:616897 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification... |
OMIM:608836 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta |
OMIM:617022 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Mirage Syndrome |
|
Hypospadias, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, C... |
OMIM:617053 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Renal t... |
ORPHA:370 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:228308 |
| American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly |
ORPHA:3386 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... |
OMIM:251880 |
| Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Oligosacchariduria |
OMIM:230000 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... |
ORPHA:464329 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Abnormal heart morphology, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegal... |
OMIM:614866 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Vir... |
ORPHA:91138 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... |
OMIM:230800 |
| Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... |
OMIM:216360 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Hematuria, Splenomegaly, Abnormal h... |
ORPHA:36412 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, Mitral valve pro... |
ORPHA:324410 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poik... |
OMIM:618278 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... |
ORPHA:822 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
| Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... |
ORPHA:39041 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... |
ORPHA:90033 |
| Caroli Disease |
|
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391428 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Increased hepati... |
OMIM:614921 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Ascites, Cardiomegaly, Cirrhosis, Left ventricular hypertr... |
ORPHA:57777 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy, Ascites |
OMIM:261740 |
| Felty Syndrome |
|
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... |
ORPHA:47612 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder |
ORPHA:349 |
| Scrub Typhus |
|
Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly |
ORPHA:83317 |
| Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
| Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... |
OMIM:308230 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Ascites, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
| Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... |
ORPHA:905 |
| Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... |
ORPHA:30 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:618641 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Cardiomyopath... |
OMIM:616084 |
| Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... |
OMIM:259720 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252930 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
| Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Hem... |
ORPHA:781 |
| Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Neph... |
OMIM:276700 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma... |
ORPHA:231226 |
| Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly |
ORPHA:92 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... |
ORPHA:363705 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Vacuolated lymphocytes, Spleno... |
OMIM:230500 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Complete atrioventricular canal defect, Displacement o... |
ORPHA:1329 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Ascites, Spl... |
OMIM:235255 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... |
ORPHA:2137 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defec... |
ORPHA:79330 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Hematuria, Anemia, Splenomegaly, ... |
ORPHA:77261 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcyt... |
ORPHA:231214 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Hepatomegaly, Increased mean platelet volume, Thrombocytosis, Hepatic fibrosis,... |
ORPHA:84064 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... |
ORPHA:809 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
| Primary Lipodystrophy |
|
Pancreatitis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Mucopolysaccharidosis Type 6 |
|
Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly |
ORPHA:583 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Renal tubular acidosis, Hepatocel... |
ORPHA:264580 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Ascites, Spl... |
ORPHA:1655 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... |
ORPHA:308552 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
| Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
| Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... |
OMIM:130650 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymp... |
ORPHA:2442 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly |
OMIM:252500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Pollakisuria, Cardiomegaly |
ORPHA:268 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Nephrocalcinosis |
ORPHA:53715 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Abnormality ... |
ORPHA:1677 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Ventricular septal defect, Macronodular cirrhosis... |
OMIM:619418 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:257220 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morphology, Abnormal aortic valve morp... |
ORPHA:581 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Sp... |
ORPHA:30391 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Anemia, Splenomegaly, Hypercalciuria, Polyuria |
OMIM:239200 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Ren... |
OMIM:260920 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Septate vagina |
ORPHA:2237 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233710 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233700 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:607625 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Hardikar Syndrome |
|
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Prolo... |
OMIM:301068 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233690 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Familial Mediterranean Fever |
|
Leukocytosis, Hepatomegaly, Pericarditis, Nephrotic syndrome, Peritonitis, Stage 5 chronic kidney... |
OMIM:249100 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Coronary artery stenosis, Vacuolated lymphocytes, Pancreatitis, Cardiomyopathy, Spl... |
ORPHA:565612 |
| Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Micropenis, Ambig... |
OMIM:618280 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
| Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Ci... |
OMIM:300972 |
| Familial Mediterranean Fever |
|
Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Pancre... |
ORPHA:342 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Splenomegaly, Pancytopenia, Renal cyst, Bone marrow hypocellularity,... |
ORPHA:699 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, ... |
OMIM:615688 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
| Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Polycythemia, Congenital megaure... |
ORPHA:116 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
| Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Cardiomegaly, Pancreatic islet-... |
OMIM:215140 |
| Abetalipoproteinemia |
|
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Cardiomegaly, Anemia, Cirrhosis, Hepatic steatosi... |
ORPHA:14 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... |
ORPHA:158048 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Ascites, C... |
ORPHA:75565 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Atrioventricular canal defect, Horseshoe kidney, Hepatomegaly, Splenomegaly |
OMIM:617088 |
| Brucellosis |
|
Myocarditis, Leukocytosis, Hepatomegaly, Thrombocytosis, Pericarditis, Leukopenia, Endocarditis, ... |
ORPHA:1304 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
| Bohring-Opitz Syndrome |
|
Urinary retention, Annular pancreas, Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morpho... |
ORPHA:97297 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Micropenis, Hepatosplenome... |
ORPHA:51 |
| Oeis Complex |
|
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Nephrolithiasis, Ventricular septal hypertrophy, Splen... |
OMIM:269700 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Renal cyst |
ORPHA:137675 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Webbed neck, Bifid uterus |
ORPHA:1521 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
| Multiple Myeloma |
|
Nephrotic syndrome, Lymphadenopathy, Anemia, Splenomegaly, Acute kidney injury, Nephropathy |
ORPHA:29073 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly |
