Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:601859 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hep... |
OMIM:612526 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:603909 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... |
OMIM:308240 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, Abnormality of humor... |
ORPHA:277 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... |
OMIM:618495 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... |
OMIM:614480 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... |
OMIM:619868 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol con... |
OMIM:615703 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... |
ORPHA:83313 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Lipoatrophy, Loss of gluteal subcutaneous adipo... |
ORPHA:280356 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Thick eyebrow, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, E... |
ORPHA:3268 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Lipodystrophy, Familial Partial, Type 4 |
|
Miscarriage, Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis |
OMIM:613877 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati... |
OMIM:619652 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated hepatic... |
OMIM:610717 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Ch... |
OMIM:617156 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:611369 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Ci... |
ORPHA:369 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Gout, Hypercholesterolemia |
OMIM:610947 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... |
OMIM:616100 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion, Severe short stature, Short stature, Disproportionate short-trunk short stature, Deat... |
OMIM:277300 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... |
OMIM:301078 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Lipodystrophy, Hypertriglyceridemia, Increased intr... |
ORPHA:79085 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hyp... |
OMIM:617388 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature |
OMIM:609813 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Upslanted palpebral fissure, Posterior rib fusion, Abnormal rib morphology,... |
ORPHA:1797 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... |
OMIM:614878 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... |
ORPHA:435651 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia |
OMIM:605309 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Rib fusion, Short stature, Abnormal rib morphology, Short thorax, Missing ribs, Block vertebrae, ... |
OMIM:613686 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... |
OMIM:613101 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Downslanted palpebral fissures, Epicanthus, Hepatomegaly, Death in infancy |
OMIM:614882 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Increased C-peptide level, Irregular menstruation, Lipodystrophy, Hypertriglyceride... |
OMIM:615238 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Severe short-limb dwarfism, Hepatic steatosis |
ORPHA:436182 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Postnat... |
OMIM:617093 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... |
ORPHA:449400 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... |
OMIM:615816 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Decreased p... |
OMIM:301045 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Prim... |
OMIM:604367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating... |
OMIM:619048 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Becker Nevus Syndrome |
|
Rib fusion, Pectus excavatum, Lipoatrophy, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circu... |
OMIM:615934 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Short stature, Posterior rib fusion, Epicanthus, ... |
OMIM:608406 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Inguinal hernia, Short stature, Upslanted palpebral fissure, Radiou... |
ORPHA:1988 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion, Disproportionate short-trunk short stature |
OMIM:608681 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Spondylocostal Dysostosis 5 |
|
Severe short stature, Posterior rib fusion, Pectus carinatum, Disproportionate short-trunk short ... |
OMIM:122600 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hepatomegaly, Short stature |
OMIM:261750 |
Reticular Dysgenesis |
|
Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Delayed cranial suture cl... |
ORPHA:2457 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Joint swelling, Joint dislocation, Cirrhosis, Conge... |
ORPHA:139491 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... |
OMIM:102700 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Chronic decreased circulating total... |
OMIM:613496 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Short clavicles, G... |
OMIM:248370 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis,... |
OMIM:606069 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Hypercholesterolemia |
OMIM:301033 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Hyperammonemia, Death in childh... |
OMIM:618641 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Rib fusion, Intrauterine growth retardation, Pectus excavatum, Abnormal sternum morphology, Antec... |
ORPHA:2990 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... |
OMIM:300635 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Temple Syndrome |
|
Flexion contracture, Short stature, Hypertriglyceridemia, Hypercholesterolemia, Intrauterine grow... |
OMIM:616222 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Hepatomegaly, Cirrhosis, Increased C-peptide level, Oligomenorrhea, Lipodystrophy, Hy... |
ORPHA:528 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia, Increased circulating IgE level |
OMIM:147060 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatomegaly, Loss... |
OMIM:151660 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Thick eyebrow, Short stature, Downslanted... |
ORPHA:1394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib fusion, Congenital diaphragmatic hernia, Inguinal hernia, Short stature, Camptodactyly of fin... |
ORPHA:2311 |
Tularemia |
|
Cutaneous abscess, Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age |
OMIM:601820 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Hepatic steatosis |
ORPHA:26792 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Down-sloping shoulders, Downslanted palpebral fissures, Umbilical he... |
OMIM:265000 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short stature, Short ribs, Trident acetabulum, Horizontal ribs, D... |
OMIM:617405 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... |
ORPHA:91139 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... |
ORPHA:562639 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Growth delay, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Irre... |
ORPHA:370 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Increased circulating I... |
OMIM:617303 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... |
ORPHA:443811 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Thick eyebrow, Joint dislocation, Upslanted palpebral fissure, Short stature, Gen... |
ORPHA:289522 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... |
OMIM:615122 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Cirrhos... |
ORPHA:363400 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Complement deficiency, Eosino... |
ORPHA:449432 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circulating antibody level... |
OMIM:601495 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Dysmenorrhea, Cirrhosis, Primary amenorrhe... |
ORPHA:79083 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Growth Hormone Insensitivity Syndrome |
|
Short stature, Hypercholesterolemia, Hypogonadism |
ORPHA:181393 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... |
OMIM:615381 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Dysmenorrhea, Lipodystrophy, S... |
ORPHA:2348 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... |
ORPHA:90362 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... |
ORPHA:231144 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Growth delay, Hepatomegaly, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis, Oligomenorrhea,... |
ORPHA:264580 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... |
OMIM:304790 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Death in infancy, Hypogonadism, Intrauterine gro... |
OMIM:608540 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:619386 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Menometrorrhag... |
ORPHA:90970 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation |
OMIM:613861 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma, Oli... |
ORPHA:79240 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... |
ORPHA:3162 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Hyperlipidemia, Flexion contracture, Loss of truncal subcutaneous adipose tissue... |
OMIM:608612 |
Lassa Fever |
|
Jaundice, Increased circulating IgM level |
ORPHA:99824 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia |
ORPHA:254531 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hyperbilirubinemia, Hepatic fai... |
ORPHA:79303 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Hepatomegaly, Lymphopenia, Splenomegaly, Thrombocytopenia, ... |
OMIM:617591 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia... |
ORPHA:79124 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:255120 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... |
OMIM:602390 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Rift Valley Fever |
|
Increased circulating IgG level, Hepatitis, Increased circulating IgM level, Anemia, Thrombocytop... |
ORPHA:319251 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Short stature, Splenomegaly, Decreased HDL... |
OMIM:607616 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... |
ORPHA:412 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbum... |
OMIM:619013 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... |
OMIM:614300 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Death in infancy, Di... |
ORPHA:1354 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Neonatal Severe Primary Hyperparathyroidism |
|
Narrow chest, Short stature, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis... |
ORPHA:186 |
Cog4-Cdg |
|
Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infancy, Hyp... |
ORPHA:263501 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature |
ORPHA:366 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thr... |
ORPHA:319218 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Narrow chest, Pectus excavatum, Bifid ribs, Thick eyebrow, Inguinal... |
OMIM:213980 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Hepatomegaly, Short stature |
ORPHA:2576 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... |
ORPHA:297 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... |
OMIM:300972 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Laron Syndrome |
|
Severe short stature, Osteoarthritis, Delayed puberty, Hypercholesterolemia, Abnormality of the e... |
ORPHA:633 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis, Short stature |
ORPHA:300536 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Growth delay, Hepatomegaly, Splenomegaly, Hypogonad... |
OMIM:615234 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Brucellosis |
|
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Increased circula... |
ORPHA:1304 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Absent eyebrow, Inguinal hernia, Sparse eyebrow, Sparse eyelashes, Downslanted palpeb... |
ORPHA:544488 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Igg4-Related Pachymeningitis |
|
Pancreatitis, Complement deficiency, Lymphadenitis, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Kbg Syndrome |
|
Rib fusion, Thick eyebrow, Short stature, Long palpebral fissure, Downslanted palpebral fissures,... |
OMIM:148050 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ... |
OMIM:260920 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Congenital Analbuminemia |
|
Hyperlipidemia, Miscarriage, Hypoproteinemia, Increased alpha-globulin, Lipodystrophy, Hypoalbumi... |
ORPHA:86816 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis |
OMIM:215250 |
Lambert Syndrome |
|
Decreased circulating antibody level, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia, Short stature |
ORPHA:364 |
Coccidioidomycosis |
|
Pancreatitis, Peritonitis, Abscess, Eosinophilia, Increased circulating IgG level, Mediastinal ly... |
ORPHA:228123 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Eosinophilia, Absc... |
ORPHA:400 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Death in childhood, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:614582 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
Prolidase Deficiency |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, An... |
OMIM:170100 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary ... |
ORPHA:77259 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... |
ORPHA:280365 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Increased circulating IgM level,... |
ORPHA:505248 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Flat acetabular roof, Short thorax, Missing ri... |
ORPHA:1801 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma carnitine, Decrease... |
OMIM:212140 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:612301 |
Wilson Disease |
|
Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Abnormality of the ... |
ORPHA:905 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Increased circulating IgA level, Lymphopenia |
OMIM:616395 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Mono... |
ORPHA:33226 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Hepatomegaly, Micronodular cirrhosis, Short stature, Abnormal circulating creatine kin... |
ORPHA:98907 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Lipoma, Hiatus hernia, Hepatoblastoma, Postnatal growth retardation, Miss... |
OMIM:304050 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Hiatus hernia, Hepatoblastoma, Multiple lipomas, Missing ribs, Delayed pu... |
ORPHA:50 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Porphyria Cutanea Tarda |
|
Corneal scarring, Increased circulating ferritin concentration, Ectropion, Viral hepatitis, Perip... |
ORPHA:101330 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Abnormal ... |
ORPHA:474 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Splenomegaly, Hypertr... |
OMIM:603552 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Death in infancy, Splenomegaly |
ORPHA:139406 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Gout, Enlarg... |
OMIM:232200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Retroperiton... |
ORPHA:79078 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Death in childhood, Abnormal thorax morphology, Epicanthus, Conjugate... |
OMIM:269920 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Hypersplenism, Ptosis |
OMIM:610539 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Craniosynostosis, Epicanthus, Synophrys, Arthrogryposis multiplex congenita, Hepa... |
ORPHA:254346 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly |
ORPHA:353298 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperprolinemia, Death in childhood, Elevated hepatic transaminase, Long eyelashes,... |
OMIM:619064 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Death in adolescence, Neonatal death, Camptodactyly, Stillbirth,... |
OMIM:619751 |