Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... |
OMIM:618982 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
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 |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Postnatal... |
OMIM:232700 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... |
OMIM:608106 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... |
OMIM:308240 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipo... |
OMIM:612526 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... |
OMIM:618495 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... |
OMIM:607271 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center... |
ORPHA:277 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, I... |
OMIM:614470 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... |
ORPHA:169154 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... |
OMIM:619281 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Decreased circulating IgA level, Chronic hepatitis, Impaired memory B ... |
OMIM:308230 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... |
OMIM:615703 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Oligomenorrhea, Redu... |
ORPHA:280356 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia |
OMIM:613877 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... |
ORPHA:331206 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the elbow, Short stature, Synophrys, Epicanthus, Abnormal rib mo... |
ORPHA:3268 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, ... |
OMIM:616100 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Death in infancy, Intrauterine growth retardation, Ascites, Cir... |
OMIM:617156 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Growth delay, Hyperbilirubinemia, Cirrhosis, Hypercholes... |
OMIM:605814 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... |
OMIM:610717 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... |
OMIM:300853 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:611369 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... |
ORPHA:169160 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia |
OMIM:601495 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Vertebral fusion, Block vertebrae, Severe short stature, Disproportionate short... |
OMIM:277300 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam... |
OMIM:102700 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... |
OMIM:617388 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Lipodystrophy, Hepatic steatosis, Hypertriglyceride... |
ORPHA:79085 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Hyperlipidemia, Eleva... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Oligomenorrhea, Hyperlipidemia, Lipod... |
ORPHA:435651 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617744 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Upslanted palpebral fissure, Posterior rib fusion, Missing ribs,... |
ORPHA:1797 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreas... |
OMIM:240500 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Loss of subcutaneous adipose tissue in limbs, Oligomenor... |
OMIM:604367 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Death in infancy, Epicanthus, Downslanted palpebral fissures |
OMIM:614882 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism |
ORPHA:436182 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrauterine growth retardation, Decreased liver function, Hepatic steatosis, Postnatal growth re... |
OMIM:617093 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... |
OMIM:301045 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Lipodystrophy, Elevated circulating ... |
OMIM:615980 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Rib fusion |
OMIM:609813 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Intrauterine growth retardation, Hyperalaninemia, ... |
OMIM:619048 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... |
OMIM:615816 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Lysosomal Acid Lipase Deficiency |
|
Death in infancy, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Portal hypertensi... |
OMIM:278000 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Kbg Syndrome |
|
Vertebral fusion, Short stature, Telecanthus, Long palpebral fissure, Cervical ribs, Thoracic kyp... |
OMIM:148050 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating creatine kina... |
OMIM:232400 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... |
OMIM:615934 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Multiple lipomas, Spleno... |
ORPHA:1414 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Short stature, Block vertebrae, Short thorax, Missing ribs, Rib fusion |
OMIM:613686 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Intrauterine growth retardation, Short stature, Posterior rib fusion, Epicanthu... |
OMIM:608406 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Femoral-Facial Syndrome |
|
Short stature, Upslanted palpebral fissure, Sprengel anomaly, Abnormal rib morphology, Rib fusion... |
ORPHA:1988 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Disproportionate short-trunk short stature, Rib fusion |
OMIM:608681 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Lymphadenopathy, Decreased... |
OMIM:606367 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Gracile Syndrome |
|
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... |
ORPHA:53693 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Joint dislocation, Cirrhosis, Hepatic steatosis, Increased circulati... |
ORPHA:139491 |
Becker Nevus Syndrome |
|
Pectus excavatum, Pectus carinatum, Lipoatrophy, Supernumerary ribs, Rib fusion |
ORPHA:64755 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipo... |
OMIM:608600 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... |
OMIM:613496 |
Reticular Dysgenesis |
|
Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymus, Abnor... |
ORPHA:33355 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Pectus carinatum, Posterior rib fusion, Missing ribs, Severe short stature, Sup... |
OMIM:122600 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... |
OMIM:606069 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... |
OMIM:617780 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Mandibuloacral Dysplasia |
|
Short clavicles, Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tiss... |
ORPHA:2457 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Amenorrhea, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hepatic ... |
ORPHA:528 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepati... |
OMIM:618641 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Decreased circulating antibody level, Hepatitis, Splenomegaly, Pancytopenia, Aplast... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content |
OMIM:261750 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Eosinophilia |
OMIM:147060 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas |
ORPHA:2398 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Pectus excavatum, Pterygium, Intrauterine growth retardation, Short stature,... |
ORPHA:2990 |
Temple Syndrome |
|
Intrauterine growth retardation, Short stature, Hypercholesterolemia, Hypertriglyceridemia, Flexi... |
OMIM:616222 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Intrauterine growth retardation, Elevated circulating acylcarnitine concentration |
ORPHA:26792 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... |
OMIM:607616 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Short stature, Epicanthus, Downslanted palpebral fissures, Hernia, Sprengel anomaly, ... |
ORPHA:1394 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormal nasop... |
ORPHA:3392 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... |
ORPHA:91139 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... |
ORPHA:562639 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated... |
ORPHA:370 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia |
OMIM:616576 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short stature, Umbilical hernia, Dysplastic patella, Patellar aplasia, Neck pterygia, Congenital ... |
OMIM:265000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Macrove... |
OMIM:617303 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... |
ORPHA:2137 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte prolife... |
OMIM:615122 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia, Rib segmentation... |
ORPHA:2311 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Short stature, Upslanted palpebral fissure, Joint dislocation, Long eyelashes, Ge... |
ORPHA:289522 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, General... |
ORPHA:363400 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Poland Syndrome |
|
Sprengel anomaly, Short ribs, Rib fusion |
OMIM:173800 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... |
ORPHA:449432 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... |
OMIM:608184 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:90362 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... |
ORPHA:209902 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Secondary amenorrhea, Loss of subcutaneous adipose tissue in limbs, Dysmenorrhea, L... |
ORPHA:2348 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Lipodystrophy, Hypogonadism, Hepatic steatosis, Hypertriglyceridemia, Flexion contr... |
OMIM:615381 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Growth delay, Ptosis, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:615895 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Secondary amenorrhea, Loss of subcutaneous adipose tissue in limbs, Dysmenorrhea, O... |
ORPHA:79083 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Short stature, Elevated circulatin... |
ORPHA:264580 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Short stature, Upslanted palpebral fissure, Telecanthus, Fused cervical verteb... |
OMIM:157800 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Hypogonadism, Short stature |
ORPHA:181393 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Intrauterine growth retardation, Splenomegaly, Hypogonadism, Flex... |
OMIM:608540 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Death in infancy, Elevated circulating creatine kinase concentration, Pancreatit... |
OMIM:619386 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Increased circ... |
OMIM:304790 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... |
ORPHA:231144 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation |
OMIM:613861 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Short stature, Elevated c... |
ORPHA:79240 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased proportion of CD3-positive T cells, Decreased circulat... |
ORPHA:275 |
Multiple Myeloma |
|
Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... |
ORPHA:29073 |
Primary Lipodystrophy |
|
Hyperlipidemia, Lipodystrophy, Pancreatitis, Menometrorrhagia, Splenomegaly, Cirrhosis, Hepatic s... |
ORPHA:90970 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... |
ORPHA:90003 |
Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... |
ORPHA:3162 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation |
ORPHA:1980 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Depletion of mitochondrial DNA in l... |
OMIM:251880 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Elevated transferrin ... |
OMIM:613313 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Highly arched eyebrow, Sparse eyelashes, Bifid ribs, Ptosis, Short stature, Upslanted palpebral f... |
OMIM:213980 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Short clavicles, Loss of subcutaneous adipose tissue... |
OMIM:248370 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogo... |
OMIM:602390 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:255120 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:254531 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Hepatomegaly, Absence of lymph node germinal center, Anemia, Abnormal serum ... |
ORPHA:79124 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
X-Linked Immunoneurologic Disorder |
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Decreased circulating IgG2 level |
ORPHA:2571 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... |
OMIM:613027 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Short stature, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elev... |
OMIM:619013 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Heart Defects-Limb Shortening Syndrome |
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Death in infancy, Mesomelic/rhizomelic limb shortening, Narrow chest, Abnormal rib morphology, Di... |
ORPHA:1354 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... |
OMIM:614300 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Dysbetalipoproteinemia |
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Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... |
ORPHA:412 |
Panniculitis-Induced Localized Lipodystrophy |
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Abnormal immunoglobulin level |
ORPHA:90159 |
Galactokinase Deficiency |
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Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Premature ovarian insu... |
ORPHA:79237 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Omenn Syndrome |
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B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Pyoderma Gangrenosum |
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Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Narrow chest, Short stature, Splenomegaly |
ORPHA:417 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Missing ribs, Postnatal growth re... |
OMIM:206900 |
Rift Valley Fever |
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Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytop... |
ORPHA:319251 |
Mulibrey Nanism |
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Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Short stature |
ORPHA:366 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Primary Biliary Cholangitis |
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Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Growth delay, Azoospermia, Splenomegaly, Hypogonadism, Increased circulating ferrit... |
OMIM:615234 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Ebola Hemorrhagic Fever |
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Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreatitis, Thr... |
ORPHA:319218 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Immunodeficiency 47 |
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Hepatomegaly, Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG... |
OMIM:300972 |
Laron Syndrome |
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Abnormality of the elbow, Severe short stature, Hypercholesterolemia, Osteoarthritis, Delayed pub... |
ORPHA:633 |
Ataxia-Telangiectasia |
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Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
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Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Low Phospholipid-Associated Cholelithiasis |
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Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Cog4-Cdg |
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Growth delay, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly... |
ORPHA:263501 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level |
OMIM:270300 |
Ddost-Cdg |
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Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Short stature |
ORPHA:300536 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
Igg4-Related Pachymeningitis |
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Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Complement deficiency, Eosinophilia |
ORPHA:449427 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
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Increased circulating antibody level |
OMIM:178610 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Combined Oxidative Phosphorylation Deficiency 9 |
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Hepatomegaly, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine aminotransferase c... |
OMIM:614582 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lung abscess, Leukopenia, Lymphadenopathy, Anemia, In... |
ORPHA:1304 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypo... |
ORPHA:381 |
Lambert Syndrome |
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Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Hyper-Igd Syndrome |
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Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neut... |
OMIM:260920 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Bilateral ptosis, Sparse eyebrow, Downslanted palpebral fissures, Absent eyelas... |
ORPHA:544488 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Arthritis, Acute hepatitis, Splenome... |
ORPHA:905 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Decreased adipose tissue around neck, Short clavicles, Loss of subcutaneous adipose tissue in lim... |
OMIM:608612 |
Kyphomelic Dysplasia |
|
Flat acetabular roof, Anterior rib cupping, Lateral clavicle hook, Missing ribs, Short thorax, Na... |
ORPHA:1801 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Cardiomegaly, Hyperammonemia, Hepatic steatosis... |
OMIM:212140 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Prolidase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun... |
OMIM:170100 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... |
ORPHA:400 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... |
ORPHA:77259 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... |
OMIM:313900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hepatosplenomeg... |
ORPHA:505248 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Jeune Syndrome |
|
Short stature, Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Abnormali... |
ORPHA:474 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Abscess, In... |
ORPHA:228123 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... |
OMIM:208900 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Ch... |
ORPHA:101330 |
Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Sparse lateral eyebrow, Missing ribs, Hepatoblastoma, Supernumerary... |
ORPHA:50 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Sparse lateral eyebrow, Missing ribs, Hepatoblastoma, Postnatal grow... |
OMIM:304050 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertr... |
OMIM:603552 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... |
ORPHA:33226 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Ectropion, Ptosis, Short statur... |
ORPHA:98907 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Ptosis, Cardiomegaly, Epicanthus, Abnormal thorax morphology, Splenomegaly... |
OMIM:269920 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Hepatocellular necrosis, Elevated circulating creatine kinase con... |
OMIM:201475 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia |
ORPHA:2268 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Elevated circulating creatine kinase concentration, Cardiome... |
ORPHA:42 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Ptosis, Hypocholesterolemia, Splenomegaly, Hypersplenism |
OMIM:610539 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Lipodystrophy, Spontaneous abortion, Hypercholesterolemia, Hypoa... |
ORPHA:86816 |
Chylomicron Retention Disease |
|
Growth delay, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, St... |
ORPHA:71 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Eosinophilia |
ORPHA:353298 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... |
OMIM:616516 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Long eyelashes, Hyperalaninemia, Hyperprolinemia, D... |
OMIM:619064 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Death in infancy, Splenomegaly |
ORPHA:139406 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Downslanted palpebral fissures, Short s... |
ORPHA:195 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Short stature, Gout, Pancreatitis, Hyperu... |
OMIM:232200 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concent... |
OMIM:614876 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
Hereditary Folate Malabsorption |
|
Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosin... |
ORPHA:90045 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hyperlipidemia, Craniosynostosis, Epicanthus, Arthrogryposis mul... |
ORPHA:254346 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Mac... |
OMIM:256810 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... |
OMIM:612301 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Hepat... |
OMIM:615952 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating... |
ORPHA:79078 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Short stature |
ORPHA:1513 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Death in infancy, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated... |
OMIM:618528 |
Sialidosis Type 2 |
|
Hepatomegaly, Pectus carinatum, Ascites, Short stature, Short thorax, Inguinal hernia, Splenomega... |
ORPHA:87876 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Thoracic hypoplasia, Hepatic fibrosis, Lateral clavicle hook, Short stature, Short ... |
OMIM:615630 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... |
ORPHA:169105 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Short stature, Gout, Pancreatitis, Hyperu... |
OMIM:232220 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Ptosis |
OMIM:614924 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Synophrys |
OMIM:182290 |