Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, Plasmacytosis, Cough |
ORPHA:60026 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Lympha... |
OMIM:609981 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... |
OMIM:602450 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Squamous Cell Carcinoma Of The Esophagus |
|
Cough, Lymphadenopathy |
ORPHA:99977 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia |
ORPHA:517 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... |
OMIM:619126 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Hypothyroid... |
OMIM:301082 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Thin upper lip vermilion, Abnormally low T cell receptor excision circle level, Eosinophilia, Ast... |
OMIM:618092 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... |
ORPHA:169154 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... |
ORPHA:158057 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Roifman Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eosinophilia, Recurrent pneumonia, Lymph... |
ORPHA:353298 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 20 |
|
Wheezing, Reduced natural killer cell count, Recurrent sinusitis |
OMIM:615707 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Perianal abscess, ... |
ORPHA:2686 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Roifman Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphade... |
OMIM:616651 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... |
ORPHA:39041 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ... |
ORPHA:543 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Cough, Jaundice, Lymph node hypop... |
ORPHA:276 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Asthma, Recurrent pneumonia, Bronchiectasis, H... |
OMIM:619752 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Oral ulcer, Gingivitis, Acute l... |
ORPHA:486 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Asthma, Hepatosplenomegaly, Hypothyroidism, Hepati... |
OMIM:618999 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Adenocarcinoma Of The Esophagus |
|
Cough, Lymphadenopathy |
ORPHA:99976 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Decreased proportion... |
ORPHA:169160 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Reduced natural killer ce... |
OMIM:618108 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Persistence of primary teeth, Recurrent pneumonia, High palate, Cutaneous abscess |
OMIM:147060 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr... |
OMIM:618982 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Asthma, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Decreased proport... |
OMIM:243700 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Respiratory insufficiency, Hepatomegaly |
ORPHA:139406 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Bronchiectasis, Dental crowding, Eosinophilia |
OMIM:618523 |
Hermansky-Pudlak Syndrome 2 |
|
Thin upper lip vermilion, Hepatomegaly, Absent platelet dense granules, Carious teeth, Splenomega... |
OMIM:608233 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Bronchiectasis, Eosinophilia |
OMIM:617638 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly |
OMIM:616622 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Micrognathia, Bronchiectasis, Macroglossia, T lymphocyto... |
OMIM:242860 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Enanthema, Dyspnea, Hepatitis, Thyroiditis, Lymphadenopathy, Interstitial pneumonit... |
ORPHA:139402 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... |
OMIM:620282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Wheezing, Abnormality of the lymphatic system, Hypereosinophilia, Vagina... |
ORPHA:2035 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Allergic rhinitis, A... |
ORPHA:443811 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... |
OMIM:613101 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymphocytopenia, B lymph... |
ORPHA:277 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly |
OMIM:269840 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutr... |
ORPHA:293173 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... |
ORPHA:545 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... |
ORPHA:724 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... |
OMIM:612840 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... |
ORPHA:100083 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph no... |
OMIM:209950 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Respiratory insufficiency, Thin ver... |
ORPHA:1046 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Abnormality of the dentition, Micrognathia, Sterile abscess, Recurrent pneumonia, B... |
OMIM:618282 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Wheezing, Asthma, Hypoxe... |
ORPHA:2902 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... |
ORPHA:397596 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia |
ORPHA:251393 |
Aspergillosis |
|
Sinusitis, Eosinophilia, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Neutropenia, ... |
ORPHA:1163 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... |
ORPHA:507 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:611762 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy |
ORPHA:42642 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis |
OMIM:617388 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Micrognathia, Splenomegaly, Thin vermilion border, Hypogonadism |
OMIM:608540 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... |
OMIM:618495 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi... |
OMIM:613490 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, Lymph... |
OMIM:615122 |
Caspase 8 Deficiency |
|
Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Dyspnea, Sea-blue histiocyt... |
OMIM:607616 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating... |
ORPHA:417 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Bronchiectasis, Lung abscess |
OMIM:241600 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia |
OMIM:610163 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervi... |
ORPHA:3392 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Bronchiectasis, Autoimmune thrombocytopenia, Absence of lymph node g... |
OMIM:608184 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recu... |
OMIM:301078 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Lymphadenopa... |
ORPHA:50251 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Ascites, Anemia |
ORPHA:2070 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Cholelithiasis, Thrombocyt... |
OMIM:263700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia |
OMIM:618107 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... |
ORPHA:449432 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... |
OMIM:613987 |
Peeling Skin Syndrome 1 |
|
Asthma, Eosinophilia |
OMIM:270300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
RosaĂŻ-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... |
ORPHA:35078 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Usher Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Decreased fertilit... |
ORPHA:886 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... |
ORPHA:97285 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... |
ORPHA:59303 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia |
ORPHA:90045 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:391 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Retrognathia |
OMIM:615637 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Eosinophilia, Abnormality of the dentition, Cleft palate, Gingivitis, ... |
ORPHA:2314 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Microcytic anemia, Deep philtrum, Asthma, Recurrent pneumonia, Lymphadenop... |
OMIM:619750 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Ja... |
OMIM:612714 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Dyspnea, Reticulocyto... |
ORPHA:101096 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Allergic rhinitis, Asthma, Bronchiectasis, High palate, ... |
OMIM:615816 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Micrognathia, Cryptorchidism, Leukocytosis, Lymp... |
ORPHA:99812 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al... |
OMIM:619824 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... |
ORPHA:3260 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Recurrent pneumonia, Wide mou... |
OMIM:253000 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect, Reduced sperm motility |
OMIM:602271 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... |
ORPHA:1031 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Splenomegaly, Anemia |
ORPHA:75563 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal sperm morphology, Eosinophilia, Abscess, Pneumonia, Abnormality of... |
ORPHA:228123 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Lymphadenitis, Dyspnea, Pancreatitis, Parotitis |
ORPHA:449427 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypocalcification of de... |
ORPHA:169090 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormality of the ante... |
ORPHA:449563 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Lymphangioma, Mandibular hyperostosis, Open mouth |
OMIM:176920 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Respiratory insufficiency, Lymphadenopathy |
ORPHA:26790 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Respiratory paralysis, Hepatomegaly |
OMIM:121300 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Dyspnea, Eosinophilia, Cough |
ORPHA:75566 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Thromboc... |
OMIM:610333 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Abnormality of dental color |
OMIM:163200 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Pneumonia, Follicular hyperplasia, Splenomegaly, Oral ulce... |
OMIM:619381 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Gingival... |
ORPHA:520 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Restrictive venti... |
OMIM:253010 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Anaplastic thy... |
ORPHA:142 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, C... |
OMIM:614034 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia |
OMIM:620210 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m... |
ORPHA:61 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... |
ORPHA:199299 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Respiratory insufficiency, Leukopenia, Co... |
ORPHA:108 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:98850 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo... |
ORPHA:79277 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... |
OMIM:616100 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Decreased proportion ... |
OMIM:616005 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Thin lower lip vermilion, Abnormal T cell subset distribution, B l... |
ORPHA:221139 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Felty Syndrome |
|
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Lymphadenopathy, Rh... |
ORPHA:47612 |
Netherton Syndrome |
|
Asthma, Hypereosinophilia, Allergic rhinitis, Chronic rhinitis |
OMIM:256500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... |
ORPHA:97289 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palat... |
OMIM:269920 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... |
ORPHA:1133 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pleural effusion, Lymphadenopathy |
ORPHA:85414 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Oligo... |
OMIM:308300 |
Joubert Syndrome 33 |
|
Splenomegaly, Apnea |
OMIM:617767 |
Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Splenomegaly, Erythrodontia, Hemolytic anemia |
ORPHA:95159 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis... |
OMIM:619644 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Oral ulcer, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombo... |
OMIM:301074 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Pneu... |
OMIM:614700 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, H... |
OMIM:612387 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Micrognathia, Narrow mouth, Decreased proportion of CD8-positive T cells, Recurrent... |
ORPHA:508533 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Respiratory insufficiency |
OMIM:618042 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Lym... |
ORPHA:79456 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop... |
ORPHA:79312 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bro... |
OMIM:300755 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... |
ORPHA:514 |
Igg4-Related Aortitis |
|
Asthma, Hypereosinophilia |
ORPHA:449400 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly |
OMIM:616719 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
SĂ©zary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Deep philtrum, Micronodular cirrh... |
OMIM:606003 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, Hemolytic anemia, Hepatomeg... |
ORPHA:797 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Mediastinal lymphadenopathy, Thrombo... |
ORPHA:169105 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Oral mucosal blisters |
ORPHA:555905 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocytopenia |
ORPHA:83313 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re... |
ORPHA:98813 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Rhinorrhea |
OMIM:158310 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... |
OMIM:214500 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Cough |
ORPHA:183 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop... |
ORPHA:464 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Long philtrum, Lymph... |
OMIM:605309 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph... |
ORPHA:85450 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... |
ORPHA:158048 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... |
OMIM:618165 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... |
ORPHA:3473 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Neonatal respiratory distress, Abnormal d... |
ORPHA:666 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, R... |
ORPHA:829 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia |
ORPHA:85212 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Micrognathia |
OMIM:619036 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Hepatomegaly |
OMIM:228000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia |
OMIM:617591 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... |
ORPHA:75233 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... |
ORPHA:231226 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
H Syndrome |
|
Diabetes mellitus, Microcytic anemia, Cleft upper lip, Gingival overgrowth, Amenorrhea, Lymphaden... |
ORPHA:168569 |
Scrub Typhus |
|
Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ventilatory defect, Cough |
ORPHA:83317 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Cough |
ORPHA:3386 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... |
OMIM:618394 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Micrognathia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepat... |
OMIM:274000 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Respiratory insufficiency, Lymphadenopathy, Restrictive ventil... |
ORPHA:549 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... |
ORPHA:1572 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... |
ORPHA:379 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... |
ORPHA:231214 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... |
OMIM:278000 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Pan... |
OMIM:235255 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... |
OMIM:615966 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia... |
OMIM:612541 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... |
OMIM:607626 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ventilatory defect, Pleural eff... |
ORPHA:36412 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... |
ORPHA:2136 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Dysp... |
OMIM:620233 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Micrognathia, Splenomegaly, Thrombocytopenia, Asthma, Recurre... |
OMIM:170100 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or p... |
ORPHA:83471 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar... |
OMIM:230800 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ... |
ORPHA:1655 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hypoxemia, Re... |
ORPHA:79126 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea |
ORPHA:90037 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Gingival b... |
ORPHA:77259 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Respiratory insufficiency... |
ORPHA:2905 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Asthma, Hepatic necrosis, Pulmonary carcinoid tumor, Small... |
ORPHA:100093 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova... |
ORPHA:2348 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... |
ORPHA:50918 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia |
OMIM:139090 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:306400 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly,... |
ORPHA:251066 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat... |
OMIM:305400 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal palate morphology, Restrictive ventilatory defect, Recurrent... |
ORPHA:575 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lym... |
ORPHA:464329 |
Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip vermi... |
ORPHA:93474 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Hypogeusia, Hypogonadism, Decreased serum testosterone concentration,... |
OMIM:201100 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... |
OMIM:153670 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen... |
OMIM:260920 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... |
ORPHA:540 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... |
ORPHA:1333 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... |
OMIM:603553 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Abnorm... |
ORPHA:906 |
Poikiloderma With Neutropenia |
|
Micrognathia, Carious teeth, Splenomegaly, Recurrent pneumonia, Neutropenia, Leukopenia, Recurren... |
OMIM:604173 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress |
OMIM:160900 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ulcer, Leukocytosis, Oral... |
OMIM:615688 |
Graft Versus Host Disease |
|
Pneumonia, Trismus, Jaundice, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis,... |
ORPHA:39812 |
Pediatric Systemic Lupus Erythematosus |
|
Dyspnea, Oral ulcer, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Ple... |
ORPHA:93552 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Hashimoto thyroiditis, Autoimmun... |
ORPHA:331235 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat... |
ORPHA:905 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Lymphadenopat... |
ORPHA:809 |
Cutaneous Mastocytoma |
|
Dyspnea, Lymphadenopathy |
ORPHA:79455 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respiratory... |
ORPHA:33226 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Ch... |
ORPHA:398124 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Apnea, Splenomegaly, Neutropenia, Retrognathia, Smooth philtrum |
OMIM:617050 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Microretrognathia, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis... |
OMIM:619418 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea |
ORPHA:90033 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Sialuria |
|
Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp... |
OMIM:269921 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... |
ORPHA:171 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Macroglossia, Oligodontia, Hypothyroidism |
OMIM:618440 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... |
ORPHA:79083 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Splenomegaly, Thrombocytopenia, Vacuolate... |
ORPHA:167 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... |
OMIM:610377 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Thrombocytopenia, Calvarial osteoscleros... |
OMIM:259700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Tachypnea, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymp... |
OMIM:615934 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Stomatitis |
OMIM:612852 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Everted upper lip vermilion, Apnea, Micrognathia, Cardiomegal... |
OMIM:608013 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemia, Elevated pulmonary ... |
ORPHA:199241 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Aphthous ulcer, Peritonitis, Pl... |
OMIM:249100 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... |
ORPHA:53715 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pneumonia, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphad... |
ORPHA:781 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Eosinophilia, Cardiomegaly, Splenomegaly, Dyspnea, Pulmonary venous hype... |
ORPHA:75565 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy |
ORPHA:343 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Restrictive ventilato... |
OMIM:607944 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Polycythemia Vera |
|
Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom... |
ORPHA:729 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Abnormalit... |
ORPHA:1775 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Trismus, Anemia, Stridor, Cough, Recurrent aspiration pneumoni... |
OMIM:230900 |
Carney Triad |
|
Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Adrenocorti... |
ORPHA:139411 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,... |
OMIM:607625 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... |
OMIM:617718 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Hyperthyroidism, Pneumonia, Autoimmune thrombo... |
ORPHA:37042 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Right ventr... |
OMIM:616028 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating... |
OMIM:239200 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Micrognathia |
ORPHA:3035 |
Lymphatic Malformation 6 |
|
Micrognathia, Splenomegaly, Hydrocele testis, Pleural effusion, Chylothorax, Intestinal lymphangi... |
OMIM:616843 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Splenomegaly, Leukocytosi... |
OMIM:259720 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts,... |
OMIM:610199 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Respirat... |
ORPHA:333 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bronchospasm, Increased serum serotonin, Aty... |
ORPHA:100080 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Pneumonia, Hypersplenism, Splenomegaly, Leukocytosis, ... |
ORPHA:1304 |
Malakoplakia |
|
Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Abnormality of the tongue, ... |
ORPHA:556 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Thyroiditis, Scler... |
ORPHA:2137 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Ascites, Oral leukoplakia |
ORPHA:342 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Dela... |
OMIM:611881 |
Chops Syndrome |
|
Splenomegaly, Cryptorchidism, High, narrow palate, Downturned corners of mouth, Aspiration pneumo... |
OMIM:616368 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Delayed puberty, Oral ... |
OMIM:232220 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary arterial hypertensi... |
ORPHA:71493 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Apnea, Premature loss of primary teeth, Splenomegaly, Ly... |
ORPHA:667 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Lymphangioleiomyomatosis |
|
Dyspnea, Abnormality of the lymphatic system, Pneumothorax, Abnormal morphology of female interna... |
ORPHA:538 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Splenomegaly, Deep philtrum, Cryptorchidism, Hepatosplenomegaly... |
OMIM:613563 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... |
ORPHA:30391 |
Viss Syndrome |
|
Microretrognathia, Cleft soft palate, Micrognathia, High, narrow palate, Asthma, Pneumothorax, Hy... |
OMIM:619472 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Leukocytosis, Epididymitis, Lymphadenopath... |
ORPHA:99827 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bronchospasm, Increased serum serotonin, Aty... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bronchospasm, Increased serum serotonin, Aty... |
ORPHA:100082 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... |
OMIM:300972 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion, Anemia, Lymphadenopathy |
ORPHA:29073 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Hypospadias, Cryptorchidism, Thick lower lip vermilion, C... |
ORPHA:3063 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Iron defic... |
ORPHA:100075 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Long penis, Gingiva... |
OMIM:135500 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia |
OMIM:612132 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos... |
ORPHA:536 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Pulmonary embolism, N... |
ORPHA:744 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Lymphocytic interstitial pneumonia,... |
ORPHA:289390 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum... |
OMIM:269700 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum lepti... |
OMIM:608594 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supe... |
OMIM:617088 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Behçet Disease |
|
Pulmonary embolism, Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Recurrent aphthous stoma... |
ORPHA:117 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Pancreatitis |
ORPHA:565612 |
Aspartylglucosaminuria |
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Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G... |
ORPHA:93 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Lip telangiectasia, Cholestasis, Lymphop... |
OMIM:613471 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Reticulocytosis, Orchitis, Nonproductive cough, Jaundice, Neutrophilia in presence o... |
ORPHA:99826 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... |
ORPHA:79078 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Decreased serum insulin-like growth factor 1, Respiratory failure requiring assiste... |
ORPHA:77293 |
Multiple Endocrine Neoplasia Type 2 |
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Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Cervical lymphaden... |
ORPHA:653 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia, Thick lower lip ve... |
OMIM:256040 |
Steinert Myotonic Dystrophy |
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Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Non-medullary ... |
ORPHA:273 |
Neuroendocrine Neoplasm Of Appendix |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Asthma, Ovarian neoplasm, Adrenocorticotropi... |
ORPHA:100079 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pneumonia, Splenomegal... |
OMIM:615846 |
Ileal Neuroendocrine Tumor |
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Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Inc... |
ORPHA:100078 |
Gaisböck Syndrome |
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Diabetes mellitus, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, In... |
ORPHA:90041 |
Riddle Syndrome |
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Generalized lymphadenopathy, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive venti... |
ORPHA:420741 |
Blau Syndrome |
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Splenomegaly, Dyspnea, Lymphadenopathy, Abnormality of the liver, Pulmonary arterial hypertension... |
ORPHA:90340 |
Kawasaki Disease |
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Leukocytosis, Cervical lymphadenopathy, Jaundice, Cheilitis, Hepatitis, Cholecystitis, Glossitis |
ORPHA:2331 |
Adenocarcinoma Of The Anal Canal |
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Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Leptospirosis |
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Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Cough, Pleural effusion... |
ORPHA:509 |
Chikungunya |
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Epistaxis, Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy |
ORPHA:324625 |
Plague |
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Respiratory distress, Chapped lip, Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric... |
ORPHA:707 |
Dermatomyositis |
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Pulmonary arterial hypertension, Abnormal eosinophil morphology, Respiratory insufficiency |
ORPHA:221 |
African Trypanosomiasis |
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Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomega... |
ORPHA:3385 |