Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly, Dementia, Gait disturbance |
ORPHA:2274 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... |
OMIM:607373 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Attention... |
ORPHA:369873 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Respiratory insufficiency, Hypert... |
ORPHA:97229 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology, Depression |
ORPHA:398147 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology, Impulsivity, Depression |
ORPHA:101046 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Progressive psychomotor deterioration, Motor deterioration |
ORPHA:796 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Partington Syndrome |
|
Macroorchidism, Limb dystonia |
ORPHA:94083 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology... |
ORPHA:85447 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Depression, Stridor, Orthostatic syncope, Abnormal autonomic nervous system p... |
ORPHA:98933 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Neuromuscular dysphagia, Depression, Stridor, Orthostatic syncope, Abnormal a... |
ORPHA:227510 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology, D... |
OMIM:618960 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Pleural effusion, Bra... |
ORPHA:330001 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly |
OMIM:618999 |
Roifman Syndrome |
|
Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Roifman Syndrome |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Abnormal autonomic nervo... |
ORPHA:3299 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Growth delay, Abnormal autonomic nervous system physiology, Arrhythmia, Abnormal ... |
ORPHA:168593 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Resting tremor, Tremor |
ORPHA:3077 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability |
OMIM:612126 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Dystonia |
ORPHA:139406 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:8 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder |
OMIM:617935 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Optic atrophy, Leukopenia, Chorioretin... |
OMIM:617303 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous... |
ORPHA:35069 |
Multiple System Atrophy |
|
Raynaud phenomenon, Stridor, Orthostatic syncope, Abnormal autonomic nervous system physiology, A... |
ORPHA:102 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Tremor, Choreoathetosis, Dystonia, Macroorchidism, Male hypogonadism |
OMIM:300055 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... |
ORPHA:562 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio... |
OMIM:231000 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... |
ORPHA:180229 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Leukopenia,... |
ORPHA:2298 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior |
ORPHA:329284 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Depression, Agitation, Abnormal autonomic nervous system physiology, ... |
ORPHA:2828 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... |
ORPHA:464329 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Ataxia-Telangiectasia |
|
Ataxia, Abnormal testis morphology, Polycystic ovaries, Gait disturbance, Cognitive impairment, L... |
ORPHA:100 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Hypertension, Agitation, Abnormal autonomic nervous system ph... |
OMIM:613870 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Apnea, Bradycardia |
OMIM:614498 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... |
ORPHA:314473 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia,... |
ORPHA:2131 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Men... |
OMIM:607616 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... |
OMIM:620010 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage |
OMIM:616414 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate ut... |
ORPHA:2745 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Nonproductive cough, Dyspnea, Jaw claudication, Weight... |
ORPHA:85443 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, T... |
ORPHA:36238 |
Rett Syndrome |
|
Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin, Failure to thriv... |
ORPHA:778 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... |
OMIM:602271 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy |
ORPHA:769 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... |
OMIM:232200 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression |
OMIM:121300 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... |
ORPHA:441 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Respiratory insufficie... |
ORPHA:58 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Az... |
ORPHA:168569 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment |
ORPHA:172 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction... |
OMIM:169500 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Inherited Creutzfeldt-Jakob Disease |
|
Depression, Irritability, Abnormal autonomic nervous system physiology, Emotional lability, Vesti... |
ORPHA:282166 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Postnatal growth retardation, Delayed early-childhood social milestone de... |
ORPHA:300570 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Growth delay, ... |
ORPHA:3095 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... |
OMIM:613313 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology, Depression |
ORPHA:163921 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Agitation, Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping,... |
OMIM:617903 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis, Lethargy |
OMIM:602390 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic ... |
ORPHA:284 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Ascites, Eosinophilia, Anemia |
ORPHA:2070 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Postural hypoten... |
OMIM:256800 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Depression, Abnormal autonomic nervous system physiology, Hypothyroidism, Ha... |
ORPHA:83601 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Shyness, Aggressive behavior, Hypothyroidism, ... |
ORPHA:449291 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Haddad Syndrome |
|
Aganglionic megacolon, Small for gestational age, Central hypoventilation, Breathing dysregulatio... |
ORPHA:99803 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Fatal Familial Insomnia |
|
Weight loss, Apnea, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:600072 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly |
ORPHA:324410 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Thrombocytopenia, Optic atrophy, Chore... |
ORPHA:79312 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... |
ORPHA:314478 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Short stature, Optic atrophy, Adre... |
OMIM:231550 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Polycystic ovaries |
OMIM:608709 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Dystonia, Portal hypertension, Un... |
OMIM:216360 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Iris coloboma |
OMIM:618874 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Confusion, Thrombocytopenia... |
ORPHA:3260 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum |
ORPHA:314621 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... |
ORPHA:251004 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Preeclampsia |
|
Thrombocytopenia, Abnormality of the hepatic vasculature, Polycystic ovaries |
ORPHA:275555 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va... |
ORPHA:2035 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hypothalamic hamartoma |
ORPHA:649929 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Optic atrophy, Respiratory insuffi... |
ORPHA:3463 |
Sialidosis Type 2 |
|
Hepatomegaly, Tremor, Splenomegaly, Nephropathy, Ascites, Abnormal macular morphology |
ORPHA:87876 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... |
ORPHA:505248 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Depression, Aspiration pneumonia, Dysp... |
ORPHA:79264 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Irregular menstruation, Hepatocellular adenoma, E... |
ORPHA:79259 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Autonomic bladder dysfunction, Dysph... |
ORPHA:447896 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia |
ORPHA:75566 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... |
ORPHA:90790 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dyst... |
OMIM:610333 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Decreased heart rate variability, Hypercapnia, A... |
OMIM:209880 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... |
ORPHA:178320 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Igg4-Related Pachymeningitis |
|
Confusion, Eosinophilia, Lymphadenitis, Mental deterioration, Pancreatitis, Parotitis |
ORPHA:449427 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Depression, Hypertension, Abnormal autonomic nervous system physiology, Compulsive behaviors, Dys... |
ORPHA:93256 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression, Leukopenia, Thromb... |
ORPHA:108 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphade... |
ORPHA:228123 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad... |
OMIM:257200 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... |
ORPHA:276280 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E... |
ORPHA:449432 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Anorexia, Tachypnea, Weight loss, Growth delay, Irritability |
ORPHA:79242 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe short stature, Aganglionic megacolon, Abnormal autonomic nervous sys... |
ORPHA:1051 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Joubert Syndrome 33 |
|
Splenomegaly, Ataxia |
OMIM:617767 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Depression, Ovarian cyst, Mental deterioration, Emotional lability, Pancreatitis |
OMIM:610475 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hepatoblastoma, Polycythe... |
ORPHA:116 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se... |
ORPHA:201 |
Porphyria Variegata |
|
Tachycardia, Hypertension, Respiratory paralysis, Abnormal autonomic nervous system physiology, I... |
ORPHA:79473 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te... |
ORPHA:335 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal g... |
ORPHA:75249 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Tachypnea, Polyphagia, Decreased body weight |
OMIM:620085 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Torticollis, Hepatic cysts, Ureteral hypoplasia, Peripor... |
ORPHA:79328 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, I... |
OMIM:604320 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Ataxia, Splenomegaly, Irritability, Cirrhosis |
OMIM:613489 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology, Aggressive behavior |
OMIM:300894 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Angiostrongyliasis |
|
Irritability, Hypereosinophilia |
ORPHA:74 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... |
ORPHA:90674 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Growth delay, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Short stature, Respiratory insufficiency, Thin skin, Abnormal autonomic nervous system phy... |
OMIM:601559 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, As... |
ORPHA:94093 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology, Dysphagia, Depression |
OMIM:168600 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough |
OMIM:614575 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Splenomegaly, Emotional lability, Irritability, Hypogonadism, Lethargy, Dec... |
OMIM:201100 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:363722 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... |
OMIM:618280 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur... |
ORPHA:860 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Abnormal autonomic nervous system phy... |
ORPHA:71273 |
Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple, Gait disturbance, Cognitive impairment, Attention deficit hyp... |
ORPHA:464 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Eosinophilia |
ORPHA:183 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Tachypnea, Irritability, Hypertension, Agitation, Hypotension, Abnorma... |
ORPHA:43116 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:3085 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,... |
ORPHA:454836 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:109150 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability |
OMIM:228000 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia,... |
ORPHA:508533 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, Depress... |
ORPHA:217253 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Small for gestational age, Episodic tac... |
ORPHA:26793 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothalamic hamartoma |
OMIM:619908 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegal... |
OMIM:268800 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Bruxism, Intrauterine growth retardation, Pleural e... |
ORPHA:453499 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, ... |
ORPHA:744 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertension, Respi... |
ORPHA:79126 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... |
OMIM:614299 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv... |
ORPHA:247691 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p... |
ORPHA:99027 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Small for gestational age, Postnatal growth retardation, Tachypnea, Hypertension, ... |
OMIM:613320 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556037 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice,... |
OMIM:300855 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Dementia,... |
OMIM:257220 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Depression, Cirrhosis, Difficu... |
ORPHA:905 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp... |
OMIM:308300 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556030 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... |
ORPHA:1359 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ... |
OMIM:274000 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... |
ORPHA:449563 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... |
ORPHA:91138 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries |
ORPHA:1227 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Tick-Borne Encephalitis |
|
Facial palsy, Anorexia, Depression, Abnormal glossopharyngeal nerve morphology, Abnormal autonomi... |
ORPHA:297 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:95717 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia, Precocious puberty, Macroorchidism, Dystonia |
OMIM:619950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti... |
ORPHA:500095 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... |
OMIM:246200 |
Propionic Acidemia |
|
Short stature, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Failure to thrive |
OMIM:606054 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... |
OMIM:606003 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... |
ORPHA:528 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... |
ORPHA:1655 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Tachypnea, Reduced left ventricular ejection fraction, Respiratory arrest, ... |
OMIM:201475 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Short stature, Tachypnea, Heart murmur, Pulmonic stenosis, Aplas... |
ORPHA:3426 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology |
ORPHA:68 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Pulmonary arterial hypertension, Failure to thrive, Tachypnea |
OMIM:614857 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Aspartylglucosaminuria |
|
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism |
ORPHA:93 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:247234 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, Tachypnea, Dyspnea |
ORPHA:765 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Growth delay, Intrauterine growth retardation, Short stature, Episodic tachypnea |
ORPHA:2872 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Cirrhosis, Polycystic ovaries |
OMIM:604367 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ovaries, Hepatic fibrosis, Cirrhos... |
ORPHA:79240 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Optic atrophy, Type II diabetes mellitus, Depression |
OMIM:604121 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hypo... |
OMIM:277900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... |
ORPHA:251066 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... |
OMIM:312870 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response, Hydronephrosis |
OMIM:620327 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Irritability, ... |
OMIM:267700 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly,... |
OMIM:603553 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Respiratory failure, Tachypnea, Optic disc pallor |
OMIM:615838 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Thrombo... |
OMIM:214500 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Sple... |
OMIM:615512 |
Niemann-Pick Disease Type C |
|
Aggressive behavior, Narcolepsy, Respiratory insufficiency, Depression, Respiratory failure, Disi... |
ORPHA:646 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Abnormal reproducti... |
ORPHA:797 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism |
OMIM:208400 |
Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:171695 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ir... |
ORPHA:348 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Tachypnea, Weight loss, Hypertension, Agitation, Hypotension, Cough, Oral aversion |
ORPHA:134 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Short stature, Apnea, Asthma, Abnormal autonomic nervous system physiology,... |
ORPHA:3206 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dementia, Se... |
OMIM:607625 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia... |
ORPHA:555874 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova... |
OMIM:175200 |
Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter |
OMIM:158350 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ... |
OMIM:619418 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria... |
ORPHA:77259 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Tachypnea, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, ... |
OMIM:239200 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
Cholera |
|
Tachycardia, Tachypnea, Irritability, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyper... |
ORPHA:173 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea |
OMIM:615160 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Tremor, Optic atrophy, Hepatosplenomegaly, Dyst... |
ORPHA:845 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ... |
ORPHA:423 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Aggressive behavior, Abnormality of the endocrine system... |
ORPHA:3385 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Ascites, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Ataxia, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Vag... |
OMIM:209900 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Citrullinemia Type I |
|
Failure to thrive, Tachypnea |
ORPHA:247525 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... |
OMIM:300972 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Dystonia, ... |
ORPHA:79255 |
Familial Thyroid Dyshormonogenesis |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:95716 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... |
OMIM:609049 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Capillary... |
ORPHA:36234 |
Rh Deficiency Syndrome |
|
Hypoxemia, Intrauterine growth retardation, Tachycardia, Tachypnea |
ORPHA:71275 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Depression, Memory impai... |
ORPHA:96253 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... |
ORPHA:158048 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Tachypnea, Weight loss, Hypotension |
ORPHA:20 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Splenomegaly, Er... |
OMIM:612541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Ascites |
ORPHA:75565 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Cowden Syndrome 6 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L... |
OMIM:260920 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cirrhosis... |
OMIM:608594 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Failure to thrive, Tachypnea, Telangiectasia |
OMIM:615934 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki... |
OMIM:249100 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Poly... |
OMIM:269700 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Tachypnea, Abnormality of the hypothalamus-pituitary axis, Apnea |
ORPHA:2318 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Short stature, Apnea, Rhizomelic leg shortening, Tachypnea, Rhizomelic arm shortening, Abnormal o... |
ORPHA:397715 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... |
OMIM:219800 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Tachypnea, Hyperventilation |
OMIM:253270 |
Leprosy |
|
Abnormality of the seventh cranial nerve, Abnormality of the adrenal glands, Epistaxis, Abnormal ... |
ORPHA:548 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Short Syndrome |
|
Ovarian cyst |
OMIM:269880 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Optic atrophy, Depression |
ORPHA:314404 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc... |
ORPHA:342 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormality of the hypothalamus-pituitary axis,... |
ORPHA:475 |
Genetic Transient Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226316 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Hypothalamic hamartoma |
OMIM:619775 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Precocious puberty in females, Testicular neoplasm, Elevated circulating growth ho... |
ORPHA:249 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Hyperactivity, Episodic tachypnea, Aggressive behavior, Optic d... |
OMIM:213300 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis |
OMIM:615947 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Anorexia, Tachypnea, Growth delay, Abnormal temper tantrums, Compulsive behavi... |
ORPHA:3008 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis |
OMIM:151660 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Small for gestational age, Portal hypertension, Tachypnea, Respiratory insufficien... |
OMIM:613658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapnia, Abnor... |
ORPHA:466650 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia |
OMIM:620185 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Irritability, Respiratory failure, Failure to thrive |
OMIM:618278 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Optic disc coloboma, Failure to thrive, Neonatal breathing dys... |
OMIM:608091 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar ... |
ORPHA:90340 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neopl... |
ORPHA:77293 |
Arima Syndrome |
|
Dyspnea, Tachypnea, Optic atrophy, Growth delay, Hypertension, Polydipsia |
OMIM:243910 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Digeorge Syndrome |
|
Parathyroid agenesis, Thrombocytopenia, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, O... |
OMIM:188400 |
Orofaciodigital Syndrome Type 6 |
|
Short stature, Apnea, Episodic tachypnea, Growth delay, Failure to thrive |
ORPHA:2754 |
Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Apnea |
OMIM:253260 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:90673 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Viss Syndrome |
|
Hypereosinophilia, Right ventricular hypertrophy |
OMIM:619472 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology |
ORPHA:2959 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... |
OMIM:619522 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Double Outlet Left Ventricle |
|
Failure to thrive, Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Uterine prolapse, Exaggerated startle response, Precocious puberty, Cryptorchi... |
ORPHA:438213 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ... |
ORPHA:3384 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... |
OMIM:300166 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Microphthalmia, Syndromic 3 |
|
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Orofaciodigital Syndrome Vi |
|
Agenesis of corpus callosum, Hypothalamic hamartoma |
OMIM:277170 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas... |
ORPHA:99228 |
Monosomy X |
|
Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas... |
ORPHA:99226 |
Turner Syndrome |
|
Increased circulating gonadotropin level, Biliary cirrhosis, Depression, Cholestatic liver diseas... |
ORPHA:881 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Pallister-Hall Syndrome |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma |
OMIM:146510 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Exertional dysp... |
OMIM:233450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Tachypnea, Hypertension, Mitral regurgitation, Dysphagia, Hypertrophic... |
OMIM:220111 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Tachypnea |
ORPHA:415 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior |
OMIM:610188 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:218700 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Cardiomegaly, Precocious puberty, Cry... |
ORPHA:904 |
Orofaciodigital Syndrome Type 2 |
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Tachypnea, Short stature, Apnea |
ORPHA:2751 |
Dermatomyositis |
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Abnormal eosinophil morphology |
ORPHA:221 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... |
OMIM:157170 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Pallister-Hall Syndrome |
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Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm... |
ORPHA:672 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |