Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Autism |
|
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... |
OMIM:608636 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Abnormal autonomic nervous system physiology, Hypotension, Attention deficit hy... |
ORPHA:369873 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Riboflavin Transporter Deficiency |
|
Sleep apnea, Abnormal autonomic nervous system physiology, Cachexia, Respiratory insufficiency, O... |
ORPHA:97229 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... |
ORPHA:45452 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, No ... |
ORPHA:96369 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Precocious puberty, Macroorchidism, Long penis |
ORPHA:3000 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Myoclonus-Dystonia Syndrome |
|
Depression, Personality disorder, Anxiety, Panic attack |
ORPHA:36899 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Normal interictal EEG, Anxiety |
OMIM:602066 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts |
OMIM:618999 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Multiple System Atrophy, Parkinsonian Type |
|
Apathy, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phe... |
ORPHA:98933 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Parkinsonism With Polyneuropathy |
|
Depression, Decreased motor nerve conduction velocity, Anxiety, Decreased amplitude of sensory ac... |
OMIM:619279 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Multiple System Atrophy, Cerebellar Type |
|
Apathy, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phe... |
ORPHA:227510 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia |
ORPHA:353298 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arrhythmia, Weight loss, Cardiomyopathy, Atrioventr... |
ORPHA:85447 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... |
ORPHA:39041 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Sleep apnea, Growth delay, Abnormal autonomic nervous system physiology, Arrhythmia, Abnormal pat... |
ORPHA:168593 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Ovarian Fibroma |
|
Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the... |
ORPHA:314473 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Apnea, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Self-injurious behavior, Abnormal autonomic nervous system physiology |
OMIM:615548 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression |
OMIM:613003 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Hepatomegaly, Lymphopenia, Hepatosplenomegaly, Lymphadenitis, Eosinophilia... |
ORPHA:331206 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Cho... |
OMIM:617303 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenitis, Eosinophilia, A... |
ORPHA:911 |
Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... |
ORPHA:64739 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Multiple System Atrophy |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:102 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... |
ORPHA:457083 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hepatomegaly |
ORPHA:79084 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Abnormal autonomic nervous system physiology |
OMIM:156310 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology |
OMIM:617935 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Abnormality of the gallbladder, Biliary tract neoplas... |
ORPHA:2869 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Abnormal autonomic nervous system physiology |
OMIM:300894 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... |
ORPHA:101016 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal salivary gland morphology, Thrombocytopenia, Enlarged ovaries, Polycystic ov... |
ORPHA:2298 |
Tetanus |
|
Respiratory distress, Abnormal autonomic nervous system physiology, Tachycardia, Tachypnea, Auton... |
ORPHA:3299 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
47,Xyy Syndrome |
|
Congenital stationary night blindness, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Var... |
ORPHA:8 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci... |
ORPHA:562 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... |
OMIM:304790 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... |
ORPHA:264675 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... |
OMIM:608049 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly |
OMIM:617388 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral vasculitis, Anxiety, Hypothyroidism, Hashi... |
ORPHA:83601 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Aspiration pneumonia, Apneic episode... |
ORPHA:35069 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Polyembryoma |
|
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum |
ORPHA:180229 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Inherited Creutzfeldt-Jakob Disease |
|
Apathy, Abnormal autonomic nervous system physiology, Anxiety, Akinetic mutism, Emotional labilit... |
ORPHA:282166 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... |
ORPHA:60032 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly |
ORPHA:796 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia |
OMIM:613313 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Hypotension, Acute infectious pneumon... |
ORPHA:36238 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume |
ORPHA:769 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... |
ORPHA:314478 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N... |
ORPHA:70587 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology, Abnormality of ci... |
ORPHA:441 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Anemia, Ascites, Leukocytosis |
ORPHA:2070 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
H Syndrome |
|
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc... |
ORPHA:168569 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Increased circulating prolactin concentration, Emotional lability, Central diabetes i... |
ORPHA:293987 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Fabry Disease |
|
Angina pectoris, Airway obstruction, Abnormal autonomic nervous system physiology, Arrhythmia, My... |
OMIM:301500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop... |
OMIM:102700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism |
ORPHA:2745 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Abnormal P wave, Abnormal autonomic nervous system physiology, Ja... |
ORPHA:85443 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Lymphatic Filariasis |
|
Hydrocele testis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Hyp... |
ORPHA:2035 |
Haddad Syndrome |
|
Failure to thrive, Central sleep apnea, Abnormal autonomic nervous system physiology, Small for g... |
ORPHA:99803 |
Young-Onset Parkinson Disease |
|
Apathy, Abnormal autonomic nervous system physiology, Anxiety, Panic attack, Impaired social inte... |
ORPHA:2828 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... |
OMIM:130650 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy |
OMIM:602271 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus |
OMIM:598500 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Trisomy 20P |
|
Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... |
ORPHA:2686 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... |
OMIM:612651 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism |
ORPHA:1643 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... |
OMIM:256800 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Abnormal spleen morphology, Eosinophilia, Hepatic cysts, Liver abscess, Portal... |
ORPHA:284 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Alexander Disease |
|
Failure to thrive, Sleep apnea, Precocious puberty, Self-injurious behavior, Abnormal autonomic n... |
ORPHA:58 |
Preeclampsia |
|
Polycystic ovaries, Abnormality of the hepatic vasculature, Thrombocytopenia |
ORPHA:275555 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Posttransplant Acute Limbic Encephalitis |
|
Anxiety, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem... |
ORPHA:251004 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Leprechaunism |
|
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... |
ORPHA:508 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia, Delayed social development,... |
ORPHA:300570 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Craniopharyngioma |
|
Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating prolactin conce... |
ORPHA:54595 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macroorchidism |
ORPHA:324410 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Failure to thrive, Apnea, Abnormal T-wave, Abnormal autonomic nervous syste... |
ORPHA:2131 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Hypogonadism |
OMIM:608540 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Central Precocious Puberty |
|
Increased circulating gonadotropin level, Hypothalamic hamartoma |
ORPHA:759 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Iris coloboma, Macroorchidism |
OMIM:618874 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma... |
ORPHA:276280 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic Adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Cholestasis-Lymphedema Syndrome |
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Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
Immunodeficiency 32B |
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Splenomegaly |
OMIM:226990 |
Retinal Venous Beading |
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Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... |
OMIM:180080 |
Cholestasis-Lymphedema Syndrome |
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Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Duplication Of The Pituitary Gland |
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Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothalamus morphology |
ORPHA:314621 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosplenomegaly, Leukopenia, Heparan ... |
ORPHA:505248 |
Cholesterol Pneumonia |
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Pneumonia, Cough, Tachypnea |
OMIM:215030 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Elliptocytosis 1 |
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Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Loeffler Endocarditis |
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Left ventricular hypertrophy, Eosinophilia |
ORPHA:75566 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
Atypical Rett Syndrome |
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Growth delay, Poor eye contact, Episodic tachypnea, Panic attack, Abnormal pattern of respiration... |
ORPHA:3095 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Igg4-Related Submandibular Gland Disease |
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Prostatitis, Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Abnormal salivary gland mo... |
ORPHA:449432 |
Spherocytosis, Type 2 |
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Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Hodgkin Lymphoma |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Parkinson Disease 4, Autosomal Dominant |
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Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Immunodeficiency 27A |
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Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Porphyria Variegata |
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Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous system physiology, Respi... |
ORPHA:79473 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Azoospermia |
OMIM:602390 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Nephrolithiasis, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphology, Increased hep... |
ORPHA:79259 |
Congenital Fibrinogen Deficiency |
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Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Osteopetrosis, Autosomal Dominant 3 |
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Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Coach Syndrome 1 |
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Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Ataxia-Telangiectasia |
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Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Lymphopenia, Abnormal testis morphology |
ORPHA:100 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Narcolepsy 7 |
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Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
Complete Atrioventricular Septal Defect |
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Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Poor eye contact, Hyperactivity, Hyperthyroidism, Anxiety, Hypothyroidis... |
ORPHA:449291 |
Aspergillosis |
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Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... |
OMIM:611490 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Short stat... |
OMIM:231550 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Polycystic ovaries |
OMIM:608709 |
Ramos-Arroyo Syndrome |
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Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive, Abno... |
ORPHA:1051 |
Rett Syndrome |
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Failure to thrive, Increased serum leptin, Abnormal pattern of respiration, Abnormal autonomic ne... |
ORPHA:778 |
Erythermalgia, Primary |
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Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
X-Linked Sideroblastic Anemia |
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Anemia, Splenomegaly |
ORPHA:75563 |
Acute Lung Injury |
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Respiratory distress, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Diffuse alveolar hemorrhag... |
ORPHA:178320 |
Coasy Protein-Associated Neurodegeneration |
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Abnormality of thalamus morphology |
ORPHA:397725 |
Beta-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
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Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Fatal Familial Insomnia |
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Apnea, Weight loss, Abnormal autonomic nervous system physiology |
OMIM:600072 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Cardiomegaly, N... |
ORPHA:116 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... |
ORPHA:158057 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Apnea, Abnormal autonomic nervous system physiology, Hypoxemia, Central hypoventilation, Hypercap... |
OMIM:209880 |
Meacham Syndrome |
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Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Accessory spleen, Septate vagina, En... |
OMIM:608978 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Hepat... |
OMIM:615630 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... |
OMIM:105210 |
Lymphoid Interstitial Pneumonia |
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Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth... |
OMIM:618985 |
Schnitzler Syndrome |
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Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Sea-Blue Histiocytosis |
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Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Netherton Syndrome |
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Hypereosinophilia |
OMIM:256500 |
Eales Disease |
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Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Alpha-1-Antitrypsin Deficiency |
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Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Dysplastic Cortical Hyperostosis |
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Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Polycystic ovaries |
ORPHA:2228 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Pancytopenia, Splenomegaly |
OMIM:614979 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
Idiopathic Hypereosinophilic Syndrome |
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Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... |
ORPHA:3260 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Abnormality of thalamus morphology |
OMIM:613724 |
Respiratory Distress Syndrome In Premature Infants |
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Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Pfapa Syndrome |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Hemochromatosis, Type 1 |
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Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Gaucher Disease Type 2 |
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Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Wolfram Syndrome |
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Abnormal autonomic nervous system physiology, Respiratory insufficiency, Central apnea, Optic atr... |
ORPHA:3463 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Spherocytosis, Splenomegaly |
ORPHA:66518 |
Sialidosis Type 2 |
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Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites |
ORPHA:87876 |
Aicardi-Goutieres Syndrome 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size |
ORPHA:3085 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Griscelli Syndrome Type 2 |
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Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Harderoporphyria |
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Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... |
ORPHA:79312 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Eosinophilia, Lymphopenia, Hepatic cysts |
OMIM:617425 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
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Apnea, Hyperventilation, Abnormal autonomic nervous system physiology |
OMIM:617903 |
Coccidioidomycosis |
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Pancreatitis, Peritonitis, Eosinophilia, Mediastinal lymphadenopathy, Abnormality of the male gen... |
ORPHA:228123 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
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Short stature, Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Delay... |
ORPHA:447896 |
Primary Lipodystrophy |
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Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis |
ORPHA:90970 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Alg9-Cdg |
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Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Bicornuate uterus, Hypoplasia of the ovar... |
ORPHA:79328 |
Immunodeficiency 23 |
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Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
Babesiosis |
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Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T... |
ORPHA:108 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Portal Hypertension, Noncirrhotic, 2 |
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Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Interstitial Pneumonitis, Desquamative, Familial |
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Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary |
ORPHA:2795 |
Vitreoretinopathy, Neovascular Inflammatory |
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Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Cardiac-Urogenital Syndrome |
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Micropenis, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Unilateral cryptorchidism, E... |
OMIM:618280 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Familial Isolated Restrictive Cardiomyopathy |
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