Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections |
OMIM:615206 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... |
OMIM:618987 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Increased circulating ... |
OMIM:618534 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluc... |
OMIM:619220 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decreased proportion of CD4-p... |
OMIM:312863 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil... |
OMIM:614493 |
Immunodeficiency 79 |
|
Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive T cells, Recur... |
OMIM:619238 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency 48 |
|
Recurrent candida infections, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive T c... |
OMIM:269840 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections |
OMIM:615214 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency 50 |
|
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... |
OMIM:300988 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... |
OMIM:300400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... |
OMIM:308230 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media |
OMIM:616941 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... |
OMIM:613501 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... |
ORPHA:169160 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:601859 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Hemophagocytosis, Hepatic failure, Aplastic anemia, Pancytopenia, Lymphadenopathy, ... |
OMIM:308240 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... |
OMIM:615139 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... |
OMIM:618969 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, Co... |
OMIM:610163 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 51 |
|
Cutaneous abscess, Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutane... |
OMIM:613953 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Recurrent viral infec... |
OMIM:618048 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... |
OMIM:609529 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi... |
OMIM:300853 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B ... |
OMIM:212050 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... |
OMIM:608957 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infect... |
ORPHA:276 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Secretory Component Deficiency |
|
Secretory IgA deficiency, Chronic intestinal candidiasis |
OMIM:269650 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... |
OMIM:607624 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive ... |
OMIM:617241 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in... |
OMIM:613101 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp... |
ORPHA:277 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Lymphopenia, Pustule, Skin rash, Leukopenia, Follicular hyperpla... |
OMIM:615934 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Partial absence o... |
OMIM:618261 |
Pgm3-Cdg |
|
High palate, Abnormal proportion of CD8-positive T cells, Sepsis, Eczema, Chronic sinusitis, Bone... |
ORPHA:443811 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... |
OMIM:615122 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Recurrent bacterial i... |
OMIM:243700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... |
OMIM:619802 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, ... |
ORPHA:3162 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Malabsorption, Recurrent fungal infections, Viral hepatitis, Coli... |
OMIM:209920 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Crohn's disease, Decreased circulating IgG level... |
OMIM:618394 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Erythroderma, Jaundice, Lymphadenopathy,... |
ORPHA:540 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... |
ORPHA:217390 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Uve... |
OMIM:617388 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Eczema, Autoimmune throm... |
OMIM:304790 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:251190 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... |
OMIM:615577 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopeni... |
OMIM:601457 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Increased circulating IgM... |
OMIM:617099 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Recurrent infections |
OMIM:614069 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... |
OMIM:614878 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... |
ORPHA:3261 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, T lymphocytopenia, D... |
OMIM:615607 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Immunodeficiency 23 |
|
High palate, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection,... |
OMIM:615816 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otit... |
ORPHA:331235 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Recurrent infections |
ORPHA:99811 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Dysgammaglobulinem... |
ORPHA:100025 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chr... |
OMIM:613496 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Intestinal obstruction, Re... |
ORPHA:343 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... |
OMIM:301078 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Intermittent thrombocytop... |
OMIM:616740 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... |
ORPHA:449400 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... |
OMIM:618986 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Cerebellar Ataxia And Albinism |
|
Albinism, Head tremor, Ataxia |
OMIM:258300 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Immunodeficiency 104 |
|
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Otitis media, Eczema, Recurrent opportunisti... |
OMIM:608971 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... |
ORPHA:507 |
Netherton Syndrome |
|
Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villous atrophy, Hypereos... |
OMIM:256500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Reticular Dysgenesis |
|
Malabsorption, Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophils, D... |
ORPHA:33355 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Malabsorption, Sinusitis, Chronic bronchitis, Macroglossia, T ly... |
OMIM:242860 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati... |
OMIM:619652 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Wiskott-Aldrich Syndrome |
|
Melena, Sepsis, Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin te... |
OMIM:301000 |
Tularemia |
|
Cutaneous abscess, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal n... |
ORPHA:3392 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Angiostrongyliasis |
|
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Lymphopenia, Pyloric stenosis, Abdominal adhesions, Recurrent in... |
OMIM:616395 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, High palate, Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Eo... |
OMIM:147060 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Hepatic failure, Cir... |
ORPHA:186 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Infectious encephalitis, Inc... |
ORPHA:448237 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... |
OMIM:600802 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Recurrent respiratory infections |
ORPHA:2571 |
Complement Component 6 Deficiency |
|
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... |
OMIM:612446 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ... |
OMIM:603554 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Eosinophilia, Increased circulating IgE level, Pruritus |
OMIM:270300 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
Immunodeficiency 7 |
|
Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... |
OMIM:301045 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Abnor... |
ORPHA:91139 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... |
OMIM:242700 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Splenomegaly |
OMIM:605309 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P... |
ORPHA:90280 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Unusual gastrointestinal infection, Severe viral i... |
ORPHA:48435 |
Complement Component 7 Deficiency |
|
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent bronchopulmonary infections, Macroglossia, Splenomegaly, Nephritis, Leuko... |
OMIM:617303 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 58 |
|
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... |
OMIM:618131 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent infecti... |
OMIM:616576 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Brucellosis |
|
Hepatomegaly, Myocarditis, Hypersplenism, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee... |
ORPHA:1304 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... |
OMIM:306400 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616910 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... |
OMIM:615952 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Netherton Syndrome |
|
Malabsorption, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emp... |
ORPHA:634 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphadenitis, Abscess, Eczema, Anal fissure, Recurrent tonsillitis, Splenomegaly,... |
OMIM:618935 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent tonsillitis, Decreased serum complement C3, Recurrent bacterial infections, Membranopro... |
OMIM:613779 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Usual interstitial pneu... |
OMIM:178500 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased circulating IgE level |
OMIM:614328 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level, Recurrent respiratory infections |
ORPHA:1006 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... |
ORPHA:90362 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Autoimmunity, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Prolidase Deficiency |
|
High palate, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Eczema, Elevated c... |
OMIM:170100 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Rec... |
OMIM:617425 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... |
OMIM:601495 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Complement Factor D Deficiency |
|
Complement deficiency, Recurrent bacterial infections |
OMIM:613912 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natural killer cell ... |
OMIM:616050 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... |
OMIM:617591 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
Coccidioidomycosis |
|
Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pruritus, Pericarditis, Coccidioidal men... |
ORPHA:228123 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Granuloma, Cirrhosis, Sclerosing cholangitis, Increased circulating Ig... |
ORPHA:562639 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Sepsis, Abnormality of the lymp... |
ORPHA:47 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... |
ORPHA:1572 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis, Pruritus |
ORPHA:280785 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Cystic Fibrosis |
|
Decreased circulating antibody level, Recurrent respiratory infections |
ORPHA:586 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... |
OMIM:616022 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis,... |
OMIM:608233 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Recu... |
ORPHA:51636 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Roifman Syndrome |
|
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly |
ORPHA:353298 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Unusual infection, Cholestatic liver disease, Hepatomegaly,... |
ORPHA:400 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... |
OMIM:313900 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, T... |
OMIM:607616 |
Kerion Celsi |
|
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutan... |
ORPHA:499 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morphology, P... |
ORPHA:39041 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal cen... |
ORPHA:79124 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutro... |
OMIM:603552 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Autosomal Agammaglobulinemia |
|
High palate, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Sepsi... |
ORPHA:33110 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Panhypogammaglobulinemia, Recurrent sinusitis,... |
OMIM:615207 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Eleva... |
OMIM:613490 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Rift Valley Fever |
|
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Severe viral infection, Elevated... |
ORPHA:319251 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:241600 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Hepatomegaly, Epididymitis, Cardiomegaly, Lymp... |
OMIM:256040 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Pruritus |
ORPHA:158025 |
Lassa Fever |
|
Conjunctivitis, Sepsis, Increased circulating IgM level, Dysphagia, Jaundice |
ORPHA:99824 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Pancolitis... |
OMIM:618213 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Felty Syndrome |
|
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splen... |
ORPHA:47612 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Eosinophilopenia |
|
Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:620040 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Recurrent infections, Increased circulating IgE level, Celiac disease, Thyroiditis |
OMIM:618985 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Recurrent u... |
ORPHA:169105 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, B lymphocytopenia, Pneumonia, Lymphadenopathy, Decreased proportion of naive T cells, ... |
OMIM:619381 |
Vici Syndrome |
|
Recurrent fungal infections, Decreased circulating IgG level, Gray matter heterotopia, Cleft pala... |
OMIM:242840 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of ne... |
ORPHA:33226 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Pyloric stenosis, Abnormality of neutro... |
ORPHA:381 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopapular exanthema, Hep... |
OMIM:619644 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Myositis, Thrombocytopenia, Increased circulating Ig... |
ORPHA:79078 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Severe infection, Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Insulin-Resistance Syndrome Type B |
|
Decreased serum complement factor B, Increased circulating IgA level, Nephritis, Skin rash, Enlar... |
ORPHA:2298 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Increased circulati... |
ORPHA:284227 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:612301 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Pneumonia, Malabsorption, Colitis, Eczemato... |
ORPHA:37042 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, En... |
OMIM:243150 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... |
ORPHA:125 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Recurrent bacterial infections, Art... |
ORPHA:36412 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... |
ORPHA:781 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis |
OMIM:215250 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Pruritus, Er... |
ORPHA:79456 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... |
ORPHA:829 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... |
OMIM:614576 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... |
ORPHA:77259 |
Dominant Beta-Thalassemia |
|