Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Dementia |
OMIM:615483 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Myoclonus-Dystonia Syndrome |
|
Depression, Personality disorder, Anxiety, Panic attack |
ORPHA:36899 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Irritability, Dementia |
OMIM:606438 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Cardiomegaly, Macroorchidism |
OMIM:300886 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia |
ORPHA:98764 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556037 |
Roifman Syndrome |
|
Irregular vertebral endplates, Hip contracture, Hepatomegaly, Splenomegaly, Biconvex vertebral bo... |
OMIM:616651 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes |
ORPHA:97290 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556030 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes |
ORPHA:319487 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Cardiom... |
OMIM:252920 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Skeletal muscle atrop... |
OMIM:256550 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Biconvex verteb... |
ORPHA:353298 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Ventricular septal defect,... |
OMIM:617022 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Attrv122I Amyloidosis |
|
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive ca... |
ORPHA:85451 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Steppage gait |
OMIM:618036 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... |
OMIM:612840 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
Cold Agglutinin Disease |
|
Hepatomegaly, Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:90793 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Decreased carnitine lev... |
OMIM:212140 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... |
ORPHA:3097 |
Fucosidosis |
|
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Ma... |
OMIM:230000 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... |
OMIM:602782 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Autoimmune hemolytic anemia, Lymphaden... |
OMIM:619183 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... |
ORPHA:54251 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Platyspondyly, Ovoid... |
OMIM:239850 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... |
OMIM:618280 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... |
ORPHA:277 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Testicular... |
ORPHA:83469 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, A... |
ORPHA:324410 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... |
OMIM:618652 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Dilated cardiomyopathy, G... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm, Macroglossia |
ORPHA:2221 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Congeni... |
OMIM:601186 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cirrho... |
ORPHA:465508 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... |
ORPHA:507 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Myopathy, Lymphadenopathy |
OMIM:612783 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Scoliosis, Cholestasis, Dilated cardiomy... |
OMIM:615895 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:607454 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Akinesia |
OMIM:618822 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Skeletal muscle atrophy |
ORPHA:3162 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... |
OMIM:257200 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Short neck, Scoliosis, Microcytic anemia, Lymphadenopathy |
OMIM:619750 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Jaundice, Abnormally low T cell... |
ORPHA:276 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Spinal rigidity, Right ventricular hypertrophy, Proximal muscle weakness in lower... |
ORPHA:268 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:411703 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Tularemia |
|
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... |
ORPHA:911 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia... |
ORPHA:47612 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Fucosidosis |
|
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Dec... |
ORPHA:349 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Thymus hyperplasia, Congenital contract... |
OMIM:619036 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Distal arthrogryposis, Hepatic steatosis, Skeletal muscle atrophy, My... |
ORPHA:42 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Goiter, Lymphadenopathy, Abnormal skeletal muscle morphology |
ORPHA:142 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Legionnaires Disease |
|
Lymphopenia, Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone marrow hypoce... |
ORPHA:549 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... |
OMIM:115197 |
Scrub Typhus |
|
Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Micropenis, Hypospadias, Short neck, Platyspondyly, Ventricular septal defec... |
OMIM:616897 |
Mogs-Cdg |
|
Hydrocele testis, Thoracic scoliosis, Atrial septal defect, Hepatomegaly, External genital hypopl... |
ORPHA:79330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... |
OMIM:619151 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Facial palsy |
ORPHA:100084 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice |
ORPHA:99978 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadenitis, Hemolytic an... |
OMIM:618935 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Familial Pancreatic Carcinoma |
|
Exocrine pancreatic insufficiency, Neoplasm of the liver, Back pain, Extrahepatic cholestasis, He... |
ORPHA:1333 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligospermia, Hypogonadism, Myo... |
ORPHA:85450 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Myopathy, Lymphadenopathy |
ORPHA:169090 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Exercise-induced rhabdomyolysis, Hype... |
OMIM:201475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... |
OMIM:613179 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T... |
OMIM:300755 |
Glycogen Storage Disease Ii |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Limb muscle weakness... |
OMIM:232300 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion |
ORPHA:36412 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Dysplastic sacrum, Severe platyspondyly, Short neck, Cardiomegaly |
OMIM:613320 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myositis, Myocarditis, Hemol... |
ORPHA:809 |
Castleman Disease |
|
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... |
ORPHA:160 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Myositis |
ORPHA:69126 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... |
OMIM:619644 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Lymphadenopathy, Abnormal liver pa... |
ORPHA:1332 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Scoliosis, Tetralogy of Fallot, Fused cervical vertebrae, Apl... |
ORPHA:3320 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... |
ORPHA:39041 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Refsum Disease, Classic |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Abnormality of the thymus, Thenar muscl... |
ORPHA:2463 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Pancytopenia, Cryptorchidism, Lymphadenopathy, A... |
ORPHA:99812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Macrophage Activation Syndrome |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... |
ORPHA:158061 |
Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Thrombocytosis, Visceromegaly, Scler... |
ORPHA:2905 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Leukocytosis, Splenomegaly, Peritonitis, Myositis, Abnormal myocardium morphology, Peri... |
ORPHA:32960 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... |
ORPHA:1451 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Chronic noninfectiou... |
ORPHA:97289 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Myocarditis, Thrombocytopen... |
ORPHA:781 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia |
ORPHA:247234 |
Cantú Syndrome |
|
Platyspondyly, Short neck, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, Abnormal heart... |
ORPHA:1517 |
Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... |
ORPHA:2686 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating androgen concentration, Hypergo... |
ORPHA:90796 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... |
OMIM:618986 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Anemia, Thrombocytopenia,... |
OMIM:617591 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... |
OMIM:618048 |
Tangier Disease |
|
Facial diplegia, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Hepatosplen... |
ORPHA:31150 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Akinesia, Ataxia |
OMIM:606693 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Myopathy, Congenital, Compton-North |
|
Akinesia |
OMIM:612540 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
Manganese Poisoning |
|
Gait disturbance, Akinesia |
ORPHA:306682 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Pagod Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Agonadism, Abnormality of the spleen, Si... |
ORPHA:991 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... |
ORPHA:95699 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Lymphadenopathy, Macroglossia |
ORPHA:2483 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:83313 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Scoliosis, Vent... |
ORPHA:363705 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Anemia, Throm... |
OMIM:608013 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Perry Syndrome |
|
Akinesia, Short stepped shuffling gait |
OMIM:168605 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:261740 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Myositis, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphaden... |
ORPHA:93552 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Akinesia, Falls |
ORPHA:240071 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Atlantoaxial dislocation, Macroglossia, Splenomegaly, Lower thorac... |
OMIM:252500 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... |
ORPHA:3109 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... |
ORPHA:2237 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly |
ORPHA:100080 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Gait ataxia, Diabetes mellitus |
ORPHA:48818 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Craniofaciofrontodigital Syndrome |
|
Hypoplastic vertebral bodies, Short neck, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy, Pericardial effusion |
ORPHA:79126 |
Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis, Myositis |
OMIM:142680 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Kyphoscoliosis, Leukocytosis, Fluctuating splenomegaly, Normocytic hypo... |
OMIM:610377 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... |
OMIM:304790 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut... |
OMIM:606367 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutro... |
ORPHA:540 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymphocytopenia, Incr... |
ORPHA:2442 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Left atrial enla... |
ORPHA:57777 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy |
ORPHA:139402 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Pericardial effusion |
ORPHA:199241 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Scoliosis, Arthrogryposis multiplex cong... |
OMIM:618143 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Ventricular septal defect, R... |
OMIM:614921 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... |
ORPHA:79124 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... |
ORPHA:1916 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... |
ORPHA:50918 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Supernumerary vertebrae, Hemivertebrae, Block verteb... |
OMIM:271520 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Myositis, Thrombocytosis, Anemia, Skeletal muscl... |
OMIM:615934 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Lymphopenia, Increased inter... |
OMIM:607944 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... |
ORPHA:3384 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Akinesia |
OMIM:619147 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... |
OMIM:614700 |
Graft Versus Host Disease |
|
Hemophagocytosis, Dupuytren contracture, Chronic hepatitis, Hepatosplenomegaly, Myositis, Skeleta... |
ORPHA:39812 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Hyperlordosis, Abnormality of the uterus, Abno... |
ORPHA:3130 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Lymphadenopathy, Hepatomegaly |
ORPHA:343 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, P... |
OMIM:603553 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Flexion contracture, Splenomegaly, Recurrent tons... |
ORPHA:581 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... |
OMIM:267700 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly |
ORPHA:100082 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... |
OMIM:233710 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Abnorma... |
ORPHA:97287 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... |
ORPHA:189427 |
Lymphatic Filariasis |
|
Hydrocele testis, Orchitis, Urethral obstruction, Abnormality of the scrotum, Lymphadenitis, Abno... |
ORPHA:2035 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Macroglossia, Ventricular septal defect, Labial hypertrophy, Cr... |
ORPHA:96191 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Myopathy |
ORPHA:100093 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... |
OMIM:608836 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... |
OMIM:615688 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Meckel Syndrome 14 |
|
Single ventricle, Short neck, Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Facial hyp... |
ORPHA:308552 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... |
OMIM:233690 |
Brucellosis |
|
Abnormality of the liver, Orchitis, Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Leukopenia,... |
ORPHA:1304 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus |
OMIM:601076 |
H Syndrome |
|
Histiocytosis, Micropenis, Hepatosplenomegaly, Enlarged kidney, Camptodactyly, Microcytic anemia,... |
ORPHA:168569 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Autosomal Dominant Cerebellar Ataxia |
|
Gait disturbance, Akinesia, Choreoathetosis, Progressive cerebellar ataxia |
ORPHA:99 |
Postencephalitic Parkinsonism |
|
Akinesia |
ORPHA:97349 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis... |
OMIM:236680 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Kyphosis, Kyphoscoliosis, Atrial septal defect, Ri... |
OMIM:300967 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kid... |
OMIM:130650 |
Acute Promyelocytic Leukemia |
|
Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy |
ORPHA:520 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:612310 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Leukocytosis, Atrioventricular canal defect, Eosinophilia, Hepatosplenomega... |
OMIM:274000 |
Coccidioidomycosis |
|
Pancreatitis, Eosinophilia, Peritonitis, Abnormality of the spleen, Mediastinal lymphadenopathy, ... |
ORPHA:228123 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... |
OMIM:619665 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:168558 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormality of the lymph nodes |
ORPHA:677 |
Farber Disease |
|
Flexion contracture, Hepatosplenomegaly, Hepatic fibrosis, Anemia, Thrombocytopenia, Skeletal mus... |
ORPHA:333 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:289548 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... |
OMIM:619203 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Hyper-Igd Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:260920 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Access... |
OMIM:618419 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Leukocytosis |
OMIM:617099 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Abnormality of the lymphatic system, Abnormal morphology of female internal gen... |
ORPHA:538 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... |
ORPHA:167 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... |
ORPHA:365 |
Kennerknecht syndrome |
|
Short neck, Thoracolumbar scoliosis, Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Hepatosplenomegaly, Abnormality of the cervical spine, Anemia, Lymphadenopathy |
ORPHA:85408 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Lymphoid leukemia |
ORPHA:79140 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... |
ORPHA:189439 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Abetalipoproteinemia |
|
Kyphoscoliosis, Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, Myopa... |
ORPHA:14 |
Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... |
ORPHA:2729 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Micropenis, Hepatosplenomegaly... |
ORPHA:51 |
Duodenal Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased hematocrit, Extrahepatic cholestasis... |
ORPHA:100076 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Tricuspid stenosis, Pulmonic stenosis, Iron deficiency anemia, Lymphade... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Tricuspid stenosis, Pulmonic stenosis, Iron deficiency anemia, Lymphade... |
ORPHA:100077 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Precocious puberty, Atrial septal defect, Hypospadias, Accessory spleen, Scoliosis, Abn... |
OMIM:194190 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Female hypogonadism, Hypogonadotro... |
ORPHA:432 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ... |
OMIM:600802 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... |
ORPHA:3260 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Abnorm... |
ORPHA:1572 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, C... |
ORPHA:116 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Leukemia, Lymphadenopathy |
ORPHA:33226 |
Carney Triad |
|
Pheochromocytoma, Mediastinal lymphadenopathy, Leiomyosarcoma, Anemia, Lymphadenopathy |
ORPHA:139411 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Familial Mediterranean Fever |
|
Pancreatitis, Orchitis, Splenomegaly, Peritonitis, Pericarditis, Lymphadenopathy |
ORPHA:342 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Atrial septal defect, Congenital diaphragmatic hernia, Micrope... |
OMIM:309801 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Scoliosis, Spina bifida occulta, Rectovaginal fistula |
OMIM:617466 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
Multiple Myeloma |
|
Anemia, Lymphadenopathy, Vertebral compression fracture, Splenomegaly |
ORPHA:29073 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells |
OMIM:617827 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly, Ir... |
ORPHA:100075 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Proteus Syndrome |
|
Kyphosis, Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neopla... |
ORPHA:744 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Ventricular septal defect, Pan... |
OMIM:619991 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... |
OMIM:306400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Abnormal myocardium morphology, Hepatic steatosis, Cardiomyo... |
ORPHA:228308 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Kyphoscoliosis, Parathyroid adenoma, Cervical lymphadenopathy, Primary hyp... |
ORPHA:653 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia |
ORPHA:411602 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micropenis, Short neck, Aplasia of the uterus, Bone marrow hypocellularity, A... |
OMIM:614083 |
Behçet Disease |
|
Orchitis, Pancreatitis, Splenomegaly, Endocarditis, Myositis, Abnormal myocardium morphology, Per... |
ORPHA:117 |
Seckel Syndrome 7 |
|
Lumbar scoliosis, Hypoplasia of the uterus |
OMIM:614851 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Skeletal muscle hypertrophy |
OMIM:600705 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Ogden Syndrome |
|
Hydrocele testis, Short neck, Enlarged kidney, Ventricular septal defect, Jaundice, Cardiomegaly,... |
OMIM:300855 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Eosinophilia, Abnormal salivary gland mo... |
ORPHA:449432 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... |
ORPHA:100085 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Hennekam Syndrome |
|
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Camptodactyly of finger, Lym... |
ORPHA:2136 |
Gallbladder Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... |
ORPHA:100086 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Lower limb hypertonia, Bila... |
ORPHA:97297 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:37042 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Pancreatitis, Prostatitis, Urethritis, Eosinophilia, Lymphadenitis, Sclerosing chol... |
ORPHA:449395 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Limb hypertonia, Thrombocytopenia, Hemolytic anemia, Generalized lymp... |
OMIM:615846 |
Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Lymphopenia, Hepatomegaly, Atrioventricular canal defect, Cervical lymphade... |
OMIM:619573 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Diastasis recti, Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Bif... |
ORPHA:1521 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... |
ORPHA:1677 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:667 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Chronic n... |
ORPHA:100079 |
Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Kawasaki Disease |
|
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... |
ORPHA:2331 |
Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Akinesia, Falls |
OMIM:609454 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the uterus, Hypoplasia of the vagina, Long penis, Cong... |
OMIM:202010 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... |
ORPHA:75565 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Crimean-Congo Hemorrhagic Fever |
|
Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Hemoperitoneum, Leukopenia, Par... |
ORPHA:99827 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Scoliosis, Cardiomegaly |
ORPHA:91387 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Bifid uterus, Short neck, Camptodactyly, Ventricular septal defect... |
OMIM:256520 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Akinesia, Falls |
OMIM:601104 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Pancreatitis, Prostatitis, Abnormality of the extraocular muscles, Eosino... |
ORPHA:449563 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Small scrotum, Bifid scrotum, Hypoplasia of the vagina, Spina bifida oc... |
OMIM:119500 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Ventricular septal defect, Polycystic ovaries... |
ORPHA:904 |
Marburg Hemorrhagic Fever |
|
Orchitis, Lymphopenia, Pancreatitis, Back pain, Leukopenia, Reticulocytosis, Abnormal lymphocyte ... |
ORPHA:99826 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Akinesia, Abnormal prolactin level, Abnormality of renin-ang... |
ORPHA:3385 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Lymphopenia, Vaginal dryness, Leukopenia, Chronic hepatitis, Normocytic... |
ORPHA:289390 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Aplasia/Hypoplasia of the sacrum, Aplasia of the uterus, Cryptor... |
ORPHA:2879 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormality of the extraocular muscles, Myositis, Abnormal salivary gland morphology, Thrombocyto... |
ORPHA:79078 |
Sarcoidosis, Susceptibility To, 1 |
|