| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level |
OMIM:235550 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... |
OMIM:605258 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... |
OMIM:613502 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... |
OMIM:153600 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... |
OMIM:608106 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin... |
OMIM:619707 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... |
OMIM:613493 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... |
OMIM:607271 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Decrease... |
OMIM:615615 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... |
OMIM:614699 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Decreased circulating to... |
OMIM:613500 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... |
OMIM:619924 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... |
OMIM:300400 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... |
OMIM:615214 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology |
OMIM:616911 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level |
OMIM:300310 |
| Immunodeficiency 52 |
|
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... |
OMIM:617514 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... |
OMIM:607594 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... |
OMIM:612692 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... |
OMIM:611926 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of th... |
OMIM:619281 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... |
OMIM:619220 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... |
OMIM:240500 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... |
OMIM:618459 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Agammaglobulin... |
OMIM:613501 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... |
OMIM:618944 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... |
OMIM:618969 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
| Immunodeficiency 102 |
|
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:301082 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
| Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia |
OMIM:619773 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Chronic oral candidiasis, Recurrent otitis media, Complete or near-complete absence of specific a... |
OMIM:615401 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... |
OMIM:618534 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko... |
OMIM:615285 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency 11A |
|
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... |
OMIM:620430 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... |
OMIM:618982 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... |
OMIM:618394 |
| Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... |
OMIM:308220 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... |
OMIM:614470 |
| Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... |
OMIM:616740 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... |
OMIM:610163 |
| Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... |
OMIM:618261 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... |
OMIM:616100 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... |
OMIM:619510 |
| Kimura Disease |
|
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy |
ORPHA:482 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... |
OMIM:619752 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Increase... |
OMIM:619774 |
| Immunodeficiency 97 With Autoinflammation |
|
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... |
OMIM:619802 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:300861 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... |
OMIM:308230 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... |
ORPHA:169160 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... |
OMIM:617638 |
| Immunodeficiency 15B |
|
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... |
OMIM:615592 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... |
ORPHA:318 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... |
OMIM:619846 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... |
OMIM:247800 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... |
OMIM:601859 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... |
ORPHA:98813 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... |
ORPHA:436159 |
| Immunodeficiency 92 |
|
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... |
OMIM:619652 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... |
OMIM:615767 |
| Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... |
OMIM:619267 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Pneumon... |
OMIM:614069 |
| Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... |
OMIM:209950 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:620282 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... |
ORPHA:276 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... |
OMIM:212050 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D... |
OMIM:614878 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... |
ORPHA:331206 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... |
ORPHA:277 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... |
OMIM:619705 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... |
OMIM:308240 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med... |
OMIM:612783 |
| Immunodeficiency 34 |
|
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections |
OMIM:300645 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... |
OMIM:618282 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly |
ORPHA:37748 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... |
ORPHA:70593 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... |
ORPHA:169154 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... |
ORPHA:397596 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... |
OMIM:620210 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... |
OMIM:614372 |
| Immunodeficiency 48 |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... |
OMIM:269840 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... |
OMIM:614700 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... |
OMIM:618986 |
| Glanzmann Thrombasthenia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... |
OMIM:273800 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... |
ORPHA:275 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... |
OMIM:617006 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... |
ORPHA:2585 |
| Immunodeficiency 22 |
|
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Decreased circulating ... |
OMIM:615758 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... |
OMIM:187950 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... |
ORPHA:2688 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... |
OMIM:301078 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... |
OMIM:618495 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... |
OMIM:300635 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... |
OMIM:613101 |
| Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... |
OMIM:612782 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... |
OMIM:603909 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... |
OMIM:300853 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... |
OMIM:606367 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... |
OMIM:618108 |
| Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia |
OMIM:616873 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... |
OMIM:300755 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... |
ORPHA:35078 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia... |
OMIM:615577 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... |
OMIM:275350 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... |
ORPHA:100024 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... |
OMIM:620532 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... |
OMIM:618116 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Decreased circulating antibody level |
OMIM:613078 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... |
OMIM:102700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... |
OMIM:601457 |
| Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
| Reticular Dysgenesis |
|
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Aplasi... |
ORPHA:33355 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... |
OMIM:300291 |
| Boutonneuse Fever |
|
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th... |
ORPHA:83313 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Reduced... |
OMIM:242860 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... |
ORPHA:70592 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... |
OMIM:241600 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Acute otitis media, Panhypogammaglobulinemia, Pancytopenia, Sclerosi... |
ORPHA:572 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:616126 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Decreased circulating antibody level, Leukocytosis |
OMIM:618042 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... |
OMIM:601495 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... |
OMIM:616576 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... |
OMIM:615888 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... |
OMIM:618523 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... |
OMIM:619632 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... |
ORPHA:217390 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... |
OMIM:614201 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Panhypogammaglobulinemia, Colitis, Chronic mucocutaneous candidiasis, Cutaneous aner... |
OMIM:209920 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... |
OMIM:304790 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis |
OMIM:618985 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... |
OMIM:617443 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr... |
OMIM:602450 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... |
OMIM:614009 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... |
ORPHA:33110 |
| Immunodeficiency 115 With Autoinflammation |
|
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... |
OMIM:620632 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... |
OMIM:301045 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... |
OMIM:615122 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... |
OMIM:245480 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Atopic dermatitis, Decreased... |
OMIM:620603 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... |
OMIM:618048 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... |
OMIM:619693 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Sk... |
ORPHA:47 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, N... |
OMIM:226990 |
| Peeling Skin Syndrome 1 |
|
Erythroderma, Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia |
OMIM:608898 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:613496 |
| Lambert Syndrome |
|
Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... |
OMIM:617099 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr... |
OMIM:187800 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections |
OMIM:616022 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Cholestatic liver disease, Jaundice, Anemia, Hemopha... |
ORPHA:540 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number of alpha granules,... |
OMIM:139090 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... |
ORPHA:75564 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Recurrent o... |
OMIM:616910 |
| Immunodeficiency 81 |
|
Recurrent infections, Reduced antigen-specific T cell proliferation, Impaired collagen-induced pl... |
OMIM:619374 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Recurr... |
OMIM:608184 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis |
OMIM:615190 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Trimethylaminuria |
|
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... |
OMIM:615559 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... |
OMIM:619767 |
| Immunodeficiency 51 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... |
OMIM:613953 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
| Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet... |
OMIM:155100 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... |
OMIM:300972 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... |
ORPHA:183675 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... |
OMIM:612301 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... |
OMIM:600802 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Tempi Syndrome |
|
Increased circulating IgG level, Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... |
OMIM:617585 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... |
OMIM:603552 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... |
OMIM:620040 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... |
ORPHA:449400 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... |
OMIM:617388 |
| Inflammatory Pseudotumor Of The Liver |
|
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a... |
ORPHA:90003 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating total IgM, Recurrent otitis media, Sclerosing cholangitis, Increased circul... |
OMIM:243700 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Angiostrongyliasis |
|
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... |
ORPHA:74 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... |
OMIM:187900 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Chilblain Lupus |
|
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... |
ORPHA:90280 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly |
OMIM:606056 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
| Papa Syndrome |
|
Lymphadenopathy, Increased circulating antibody level, Myositis, Crohn's disease, Arthritis, Pust... |
ORPHA:69126 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:615952 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
| Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... |
ORPHA:555905 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Decreased c... |
OMIM:613385 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... |
OMIM:615816 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
| Netherton Syndrome |
|
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... |
OMIM:256500 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... |
OMIM:313900 |
| Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Immunodeficiency 116 |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... |
ORPHA:319552 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating IgG level, Acute ly... |
OMIM:208900 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Good Syndrome |
|
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... |
ORPHA:169105 |
| Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:79330 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Neutropenia, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocy... |
OMIM:150550 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ... |
ORPHA:221139 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
| Aspergillosis |
|
Increased circulating IgE level, Bronchiectasis, Sinusitis, Keratitis, Infectious encephalitis, P... |
ORPHA:1163 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating... |
ORPHA:158061 |
| Tularemia |
|
Cervical lymphadenopathy, Pneumonia, Anemia, Increased circulating antibody level, Mediastinal ly... |
ORPHA:3392 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Autoimmune Hepatitis |
|
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ... |
ORPHA:2137 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Immunodeficiency 56 |
|
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre... |
OMIM:615207 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... |
ORPHA:507 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In... |
ORPHA:562639 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... |
OMIM:620565 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Maculopapular ex... |
ORPHA:98850 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Atopic dermatitis |
ORPHA:2902 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Increased circulating IgG level, Malar rash, Increased circulating IgA level, Skin rash, ... |
OMIM:615934 |
| Immunodeficiency 27B |
|
Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri... |
OMIM:615978 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Prolonged bleeding time, Joint hemorrhage, Thrombocytopenia |
OMIM:277480 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia |
OMIM:618165 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... |
OMIM:619381 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... |
OMIM:260920 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ... |
OMIM:620376 |
| Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Iron deficiency anemia, Macrocytic anemia, Stomatitis, Thyroiditis... |
OMIM:212750 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... |
ORPHA:90045 |
| Immunodeficiency 12 |
|
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... |
OMIM:615468 |
| Felty Syndrome |
|
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph... |
ORPHA:47612 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... |
ORPHA:91139 |
| Griscelli Syndrome |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce... |
ORPHA:381 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Arthritis, Decreased circulating IgG level, Recurrent sinusitis, Rec... |
ORPHA:420741 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... |
ORPHA:158057 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ... |
OMIM:601399 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:607143 |
| Roifman Syndrome |
|
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... |
ORPHA:353298 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Bloom Syndrome |
|
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnorm... |
ORPHA:125 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Neutropenia, Lymphopenia |
OMIM:616395 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Bloom Syndrome |
|
Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Bronchiectasis, Decreased c... |
OMIM:210900 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Whim Syndrome |
|
Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal ne... |
ORPHA:51636 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Joint hemorrhage |
OMIM:605735 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Recurrent pneumonia, Splenomegaly, Decreased circulating IgA level, Hepatic steatosis |
OMIM:613327 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Cholangitis, Increased circul... |
ORPHA:449432 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumonia, Hepatosplenomegaly, M... |
OMIM:619750 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... |
ORPHA:48104 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... |
ORPHA:37042 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Pancolitis, In... |
OMIM:618213 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, D... |
ORPHA:90363 |
| Icf Syndrome |
|
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
| Multiple Myeloma |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... |
ORPHA:29073 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... |
OMIM:614868 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... |
ORPHA:3162 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Portal hypertension, Decreased circulating IgG level, Severe B lymphocy... |
OMIM:620005 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto... |
OMIM:231200 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Sepsis, Recurrent otitis media, Recurrent pneumonia, Thrombocytopenia, Recurrent bact... |
OMIM:617475 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:1802 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellularity, Increased ci... |
OMIM:617303 |
| Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... |
ORPHA:331235 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Increased circulating Ig... |
ORPHA:343 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... |
OMIM:615387 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
| Pneumocystosis |
|
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... |
ORPHA:723 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia, Pneumonia |
OMIM:266265 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Eczematoid derm... |
ORPHA:634 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... |
OMIM:301000 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, P... |
OMIM:608233 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Pneumonia, Lymphadenopathy, Decreased circulating antibody level, Bronchiec... |
ORPHA:1572 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... |
ORPHA:101096 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h... |
OMIM:307200 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... |
OMIM:242900 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Decreased circulating IgG level, Pericarditis, Hepatic fibrosis, Thrombocytosis, He... |
OMIM:212065 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Panniculitis, Myosit... |
OMIM:617591 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched me... |
OMIM:233600 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... |
ORPHA:329918 |
| Rift Valley Fever |
|
Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope... |
ORPHA:319251 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Abnormality of thrombocytes, Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis |
ORPHA:970 |
| Primary Biliary Cholangitis |
|
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... |
ORPHA:186 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... |
OMIM:615607 |
| Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Arthritis, Lymphopenia, Neutropenia |
OMIM:604250 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop... |
OMIM:605309 |
| Chediak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Periodontitis, Recurrent bacte... |
OMIM:214500 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth absce... |
ORPHA:2686 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... |
ORPHA:486 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Myositis, Abnormal lymphocyte physiology, Decreased circulat... |
ORPHA:99867 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat... |
ORPHA:79124 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... |
ORPHA:83471 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:243150 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impaired collagen-rela... |
OMIM:153670 |
| Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Prolonged bleeding time, Joint hemorrhage |
OMIM:193400 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Chronic otitis media, Increased circulating IgE level, Skin rash, Eczematoid dermatitis, Eosinoph... |
ORPHA:2314 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaundice, Thromboc... |
OMIM:170100 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... |
OMIM:617062 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ... |
OMIM:226300 |
| Mgat2-Cdg |
|
Osteopenia, Impaired platelet aggregation, Decreased circulating antibody level, Decreased circul... |
ORPHA:79329 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:614076 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation |
ORPHA:849 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... |
OMIM:616084 |
| Caffey Disease |
|
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decr... |
ORPHA:508533 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... |
ORPHA:1830 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Dubowitz Syndrome |
|
Aplastic anemia, Eczematoid dermatitis, Decreased circulating IgG level, Acute lymphoblastic leuk... |
OMIM:223370 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin ra... |
ORPHA:398124 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... |
ORPHA:158048 |
| Pelger-Huet Anomaly |
|
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... |
OMIM:169400 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p... |
OMIM:614074 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Erythroderma, Recurr... |
OMIM:615508 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia |
ORPHA:935 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ... |
ORPHA:79078 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Neutropenia |
ORPHA:238459 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... |
ORPHA:3226 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG... |
OMIM:242840 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG l... |
ORPHA:505248 |
| Tick-Borne Encephalitis |
|
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... |
ORPHA:297 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology |
ORPHA:166277 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis... |
ORPHA:73 |
| Eiken Syndrome |
|
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
| Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Thin bony cortex |
OMIM:265900 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Cryoglobulinemia, Splenomegaly, Monoclonal immu... |
ORPHA:33226 |
| Primary Sclerosing Cholangitis |
|
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... |
ORPHA:171 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophilia, Hepatic cysts |
OMIM:617425 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... |
ORPHA:811 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... |
ORPHA:319218 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Hermansky-Pudlak Syndrome 6 |
|
Absent platelet dense granules, Recurrent urinary tract infections, Impaired ADP-induced platelet... |
OMIM:614075 |
| Coccidioidomycosis |
|
Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Increased circulating IgG level, Incr... |
ORPHA:228123 |
| Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... |
ORPHA:2635 |
| Igg4-Related Kidney Disease |
|
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... |
ORPHA:449395 |
| Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Increased circulating IgG4 level, Pancreatic fibrosis, Sclerosing chola... |
ORPHA:64744 |
| Liver Failure, Infantile, Transient |
|
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre... |
OMIM:613070 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Splenic ... |
ORPHA:400 |
| Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Lymphadenopathy, Cholestasis, Leukocytosis, Predominantly dermal neutrophilic infiltra... |
ORPHA:293173 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... |
OMIM:615688 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatic... |
OMIM:613989 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233710 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin infections,... |
ORPHA:911 |
| Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, BCGosis, Recurrent urinary tract infecti... |
ORPHA:2968 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Eczematoid dermatitis, Bone marrow hy... |
ORPHA:508542 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis |
ORPHA:1525 |
| Brucellosis |
|
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Leukocytos... |
ORPHA:1304 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent bacterial infections, Osteoporosis, Joint stiffness, Camptodactyly of finge... |
ORPHA:2176 |
| Gaucher Disease Type 1 |
|
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... |
ORPHA:77259 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Skin rash, Tubulointerstitia... |
ORPHA:330015 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
| Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... |
ORPHA:83451 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... |
ORPHA:169090 |
| Igg4-Related Pachymeningitis |
|
Pancreatitis, Lymphadenitis, Reduced circulating complement concentration, Increased circulating ... |
ORPHA:449427 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
| Congenital Enterovirus Infection |
|
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Leukop... |
ORPHA:292 |
| Letterer-Siwe Disease |
|
Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutro... |
OMIM:246400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:233690 |
| Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... |
OMIM:610984 |
| Fusariosis |
|
Lung abscess, Pneumonia, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Brain absces... |
ORPHA:228119 |
| Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Eczematoid dermatitis, Thrombocytopenia, Neutro... |
OMIM:606054 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Arthritis, Thrombocytopenia, Giant platelets |
OMIM:210250 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Cho... |
OMIM:614576 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... |
ORPHA:906 |
| Ck Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex |
OMIM:619795 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
| Chédiak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... |
ORPHA:167 |
| Sepsis In Premature Infants |
|
Jaundice, Anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Leukocytosis, ... |
ORPHA:90051 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
| Acute Promyelocytic Leukemia |
|
Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocytopenia, Ne... |
ORPHA:520 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice |
ORPHA:464370 |
| Grant Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Decreased circulating antibody level, Abnormal lymphocyte morphology, Sev... |
ORPHA:293978 |
| Kenny-Caffey Syndrome, Type 1 |
|
Calvarial osteosclerosis, Decreased skull ossification, Recurrent bacterial infections |
OMIM:244460 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Ost... |
OMIM:116920 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Jaundice, Neutropenia |
OMIM:250940 |
| Gaucher Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... |
ORPHA:355 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... |
ORPHA:79324 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Primary Sjögren Syndrome |
|
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... |
ORPHA:289390 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... |
OMIM:613990 |
| Igg4-Related Ophthalmic Disease |
|
Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, Increased circulating IgE l... |
ORPHA:449563 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Skin rash, Blepharitis, Recurrent sinusitis, Leukopenia, Splenomegaly, Re... |
OMIM:604173 |
| Crimean-Congo Hemorrhagic Fever |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan... |
ORPHA:99827 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Leukopenia, Tubulointerstitial nephritis, Neutropenia |
OMIM:251000 |
| Q Fever |
|
Myocarditis, Pneumonia, Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopat... |
ORPHA:781 |
| Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
| Insulin-Resistance Syndrome Type B |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen... |
ORPHA:2298 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Trichothiodystrophy |
|
Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Eczematoid... |
ORPHA:33364 |
| Yellow Fever |
|
Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In... |
ORPHA:99829 |
| Alveolar Echinococcosis |
|
Jaundice, Anemia, Cholangitis, Increased circulating antibody level, Liver abscess, Abnormal sple... |
ORPHA:284 |
| Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Bone marr... |
ORPHA:829 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Anemia, Decreased circulating antibody level, Abnormality of the pancreas, Neutropenia |
ORPHA:175 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,... |
OMIM:610377 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures |
ORPHA:1486 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... |
ORPHA:3243 |
| Mannosidosis, Alpha B, Lysosomal |
|
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Hepatomegaly |
OMIM:248500 |
| Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Increased circulating antibody level, Bacterial endocarditis, Incr... |
ORPHA:48435 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... |
ORPHA:98849 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... |
ORPHA:83617 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Neu... |
ORPHA:2169 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, Hypoplasia of the thy... |
OMIM:612541 |
| Immunodeficiency 55 |
|
Lymphadenopathy, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natural ki... |
OMIM:617827 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... |
OMIM:618278 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Cowden Syndrome 1 |
|
Thyroiditis, Decreased circulating antibody level, Lymphopenia |
OMIM:158350 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating antibody l... |
OMIM:256040 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... |
ORPHA:3132 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... |
OMIM:306400 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Anemia, Pancytopenia, Stomatitis, Megaloblastic anemia, Skin rash, Thrombocytopenia... |
OMIM:277380 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... |
ORPHA:274 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... |
OMIM:300554 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Poems Syndrome |
|
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Polycythemia, Splenomegaly, ... |
ORPHA:2905 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:600081 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, T lymphocytopenia, Rheuma... |
OMIM:607944 |
| Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia |
OMIM:301110 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia |
OMIM:620133 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Chromomycosis |
|
Ankylosis, Recurrent bacterial infections, Osteolysis |
ORPHA:182 |
| Trichinellosis |
|
Conjunctivitis, Increased circulating IgE level, Skin rash |
ORPHA:863 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia |
OMIM:268130 |
| Syndromic Diarrhea |
|
Cirrhosis, Hepatomegaly, Gastritis, Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased... |
ORPHA:84064 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
| Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutro... |
OMIM:612562 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... |
OMIM:619644 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Thrombocytopenia, Joint hemorrhage, Abnormal platelet function |
ORPHA:903 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen... |
ORPHA:77261 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Patchy osteosclerosis |
OMIM:241410 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Thrombocytopenia, Leukopenia, Hepatic steatosis, Neutropenia |
OMIM:616271 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency,... |
ORPHA:1667 |
| Mirage Syndrome |
|
Sepsis, Radial club hand, Recurrent urinary tract infections, Thrombocytopenia, Recurrent bacteri... |
OMIM:617053 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Megaloblastic anemia, Skin rash, Reduced number of intrahepatic bile ducts, Neutropenia |
ORPHA:79284 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Peritonitis, Neutropenia |
ORPHA:391673 |
| Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex |
OMIM:617952 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, T l... |
OMIM:251260 |
| Zygomycosis |
|
Myocarditis, Fasciitis, Mediastinal lymphadenopathy, Pancreatitis, Neutropenia, Gastritis, Acute ... |
ORPHA:73263 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, B lymphocytopen... |
ORPHA:391487 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... |
OMIM:241530 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:227646 |
| Cystic Fibrosis |
|
Osteopenia, Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus inf... |
ORPHA:586 |
| Al Amyloidosis |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Howell-Jolly bodies, Abnormality of t... |
ORPHA:85443 |
| Hennekam Syndrome |
|
Lymphadenopathy, Decreased circulating antibody level, Erysipelas, Lymphangioma, Splenomegaly, Pu... |
ORPHA:2136 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Chronic irritative conjunctivitis, Neutropenia |
OMIM:258360 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Punctate ... |
OMIM:557000 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... |
ORPHA:50918 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m... |
OMIM:222470 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Chronic oral candidiasis, Increased circulating IgE level, Skin rash, Chronic mucocutaneous candi... |
OMIM:147060 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Impaired platelet aggregation |
OMIM:241200 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno... |
OMIM:232220 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... |
OMIM:250250 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thromboc... |
OMIM:260400 |
| Lysinuric Protein Intolerance |
|
Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Increased circulating antibody level, Pancreat... |
ORPHA:470 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... |
ORPHA:2484 |
| Pearson Syndrome |
|
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... |
ORPHA:699 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Anemia, Severe periodontitis, Recurrent otitis media, Leukocytosis, Neutrophilia, R... |
ORPHA:99843 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Decreased circulating antibody level, Anemia |
ORPHA:79396 |
| Hypocomplementemic Urticarial Vasculitis |
|
Arthritis, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
| Kasabach-Merritt Phenomenon |
|
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... |
ORPHA:2330 |
| Viss Syndrome |
|
Increased circulating IgG level, Chronic gastritis, Increased circulating IgE level, Atopic derma... |
OMIM:619472 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:600901 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Microcytic anemia, Neutropenia |
OMIM:251900 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Ar... |
OMIM:181000 |
| Dent Disease 1 |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
OMIM:300009 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Jaundice, Anemia, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Hepatosplenome... |
ORPHA:247598 |
| Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Decreased circulating IgG level, Keratoconjunctivitis sicca |
OMIM:601675 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Thrombocytopenia, Exocrine pancreatic i... |
OMIM:617941 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis, Abnormal cortical bone morphology |
OMIM:614886 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227650 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:264700 |
| Cysticercosis |
|
Increased anti-parasite IgE antibody level, Increased circulating antibody level |
ORPHA:1560 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:277440 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... |
ORPHA:228426 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Hepatitis, Thrombocytop... |
OMIM:615846 |
| Leigh Syndrome |
|
Eczematoid dermatitis, Anemia, Neutropenia |
ORPHA:506 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... |
ORPHA:91500 |
| Pediatric-Onset Graves Disease |
|
Jaundice, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Episcleritis, Throm... |
ORPHA:525731 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... |
ORPHA:54251 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... |
OMIM:259600 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis |
OMIM:614204 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular adenoma, Hepatomegaly, Anemia, Pancreatitis, Increased hepatic glycogen content, P... |
ORPHA:79259 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Increased bone mineral density, Abnormal platelet function, Ectopic... |
ORPHA:79443 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Increased circulating IgE level, Splenomegaly, Hepatoblastoma, Pancreatic islet-cel... |
ORPHA:373 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Toxic Epidermal Necrolysis |
|
Pancreatitis, Anemia, Thrombocytopenia, Conjunctivitis, Neutropenia |
ORPHA:537 |
| Sponastrime Dysplasia |
|
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Abscess, Osteomyelitis |
OMIM:612852 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Joint hemorrhage, Thrombocytosis, Impaired platelet adhesion |
ORPHA:324636 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex,... |
ORPHA:289157 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Malar rash, Skin rash, Leukemia, Neutropenia |
ORPHA:2909 |
| Pachydermoperiostosis |
|
Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly... |
ORPHA:2796 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar... |
OMIM:232240 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia |
OMIM:277400 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Decreased calvarial ossification, Recurrent pneumonia, Joint hypermobility, Thin bony... |
OMIM:613848 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Thrombocytopen... |
OMIM:274000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Stomatitis, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Eczematoid dermatitis, Neutropenia |
OMIM:617799 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Osteolysis, Osteoma... |
ORPHA:249 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob... |
ORPHA:3206 |
| Khan-Khan-Katsanis Syndrome |
|
Neutropenia, Anemia, Lymphopenia |
OMIM:618460 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections |
ORPHA:244 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Noonan Syndrome |
|
Osteopenia, Joint hypermobility, Abnormal platelet function, Radioulnar synostosis |
ORPHA:648 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
| Immunodeficiency 87 And Autoimmunity |
|
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Thr... |
OMIM:619573 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221008 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221016 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Arthritis, Myelo... |
ORPHA:3260 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Pancreatitis, Increased circulating antibody level, Lymphadenopathy, Neutrophilia in pr... |
ORPHA:99826 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Crohn's disease, Arthritis, Leukocytosis, Pericarditis, Erysipelas, Neutrophilia, S... |
OMIM:249100 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Thin bony cortex |
OMIM:230600 |
| Oculodentodigital Dysplasia |
|
Hyperostosis, Cranial hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger |
ORPHA:2710 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Anemia, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnorm... |
ORPHA:95455 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis |
OMIM:309583 |
| Patent Urachus |
|
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections |
ORPHA:431341 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
| Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
| Osteogenesis Imperfecta |
|
Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Fractures of the lon... |
ORPHA:666 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Recurrent urinary tract infections, Joint hype... |
OMIM:613658 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Spondyloocular Syndrome |
|
Osteopenia, Femur fracture, Thin bony cortex |
OMIM:605822 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Camptodactyly, Cortical irregularity, Osteoporosis |
OMIM:249420 |
| Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Thin bony cortex |
OMIM:277600 |
| Aspartylglucosaminuria |
|
Acne, Vacuolated lymphocytes, Hepatomegaly, Neutropenia |
OMIM:208400 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex |
OMIM:608328 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent infections, Camptodactyly of finger, Recurrent respiratory infections, Recurrent bacter... |
ORPHA:2273 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |
| Aspartylglucosaminuria |
|
Joint stiffness, Arthritis, Recurrent respiratory infections, Abnormal cortical bone morphology |
ORPHA:93 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Decreased circulating antibody level, Recurrent otitis media, Asplenia |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Enterocolitis, Decreased circulating antibody level, Recurrent otitis media, Asplenia |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Decreased circulating antibody level, Recurrent otitis media, Asplenia |
ORPHA:261552 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Septic arthritis, Recurrent Staphylococcus aureus infections, Osteomyelitis, Painless fractures d... |
ORPHA:642 |
