| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... |
OMIM:618459 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... |
OMIM:619238 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
| Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... |
OMIM:269840 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... |
ORPHA:397596 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... |
OMIM:618982 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophi... |
ORPHA:169160 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... |
OMIM:308240 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... |
OMIM:610163 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... |
OMIM:209950 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... |
OMIM:618048 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increa... |
ORPHA:37748 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... |
OMIM:212050 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... |
OMIM:300635 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... |
OMIM:617241 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... |
OMIM:618495 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... |
OMIM:616100 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia... |
OMIM:619510 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Partial absence o... |
OMIM:618261 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Follicular hyperplasia, Pustu... |
OMIM:615934 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... |
OMIM:614470 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... |
OMIM:614069 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... |
ORPHA:277 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... |
OMIM:616098 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, Splenomegaly, ... |
ORPHA:3162 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... |
OMIM:209920 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly, ... |
OMIM:620210 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymp... |
ORPHA:83313 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:615767 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... |
ORPHA:217390 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Immunodeficiency, Common Variable, 10 |
|
Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre... |
OMIM:615577 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... |
OMIM:619752 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase... |
OMIM:617099 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... |
OMIM:615758 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... |
OMIM:613179 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
| Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... |
OMIM:601457 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Allergic rhinitis, ... |
OMIM:256500 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... |
OMIM:226990 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o... |
OMIM:614700 |
| Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneum... |
OMIM:301078 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... |
OMIM:608971 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... |
ORPHA:3392 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, D... |
ORPHA:33355 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, T lymphocytopenia, Increa... |
OMIM:242860 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233710 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Hypereosinophilia, Unusual CNS infection, Increased ci... |
ORPHA:74 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Increased circulating IgA level, Pyloric stenosis, Abdominal adhesions, Recu... |
OMIM:616395 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233690 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Pruritus, Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... |
OMIM:147060 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Meningitis, Arthritis, Increased ... |
ORPHA:448237 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Pruritus, Celiac disease, Jaundice, Hepatic... |
ORPHA:186 |
| X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... |
ORPHA:29073 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Complement Component 6 Deficiency |
|
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... |
OMIM:612446 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod... |
OMIM:301045 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Atelectasis, Recurrent E. coli infect... |
OMIM:306400 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... |
ORPHA:91139 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, U... |
ORPHA:48435 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... |
OMIM:610102 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent infections, Decreased circulat... |
OMIM:616576 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent pneumon... |
OMIM:617303 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased c... |
ORPHA:1304 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev... |
ORPHA:634 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... |
OMIM:618116 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616910 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Increased stool alpha1-antitrypsin concentr... |
ORPHA:90362 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity |
ORPHA:2902 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Blepharitis |
OMIM:614328 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Recurrent b... |
OMIM:613779 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:618935 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Increased c... |
OMIM:178500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
| Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Thrombocytop... |
OMIM:170100 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Reduced natural killer cell activity, Diffuse alveolar ... |
OMIM:616050 |
| Roifman Syndrome |
|
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp... |
OMIM:617591 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma, Anal atre... |
OMIM:617425 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... |
ORPHA:562639 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... |
OMIM:603554 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... |
OMIM:607616 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Invasive ... |
ORPHA:400 |
| Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Hepatomegaly, Absent platelet dense granules, Reduced natural killer ce... |
OMIM:608233 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis,... |
ORPHA:39041 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... |
ORPHA:79124 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... |
OMIM:613490 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent infections, Panhypogammaglobulin... |
OMIM:615207 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Lassa Fever |
|
Jaundice, Sepsis, Increased circulating IgM level, Conjunctivitis, Dysphagia |
ORPHA:99824 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... |
OMIM:256040 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Severe viral i... |
ORPHA:319251 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, R... |
OMIM:619381 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections |
OMIM:618985 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Gastrointestinal hemorrhage, Abnormality of ne... |
ORPHA:33226 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620040 |
| Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Gastroesophageal reflux... |
ORPHA:125 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
| Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Men... |
ORPHA:37042 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ... |
ORPHA:2298 |
| Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Asci... |
ORPHA:64743 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Decreased circula... |
OMIM:243150 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Tempi Syndrome |
|
Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Abnormality... |
ORPHA:284227 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Meningitis, Uveitis, Lymphadenopat... |
ORPHA:36412 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, ... |
ORPHA:79456 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Q Fever |
|
Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul... |
ORPHA:781 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorm... |
ORPHA:77259 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... |
OMIM:603553 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C... |
OMIM:615895 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cor... |
OMIM:614576 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... |
ORPHA:829 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infe... |
ORPHA:723 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227990 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Hypersplenism,... |
OMIM:613385 |
| Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ... |
OMIM:614162 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Gastroesophageal reflux, Dysphagia, Decreased circulating IgA l... |
DECIPHER:45 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Increased circulating interleukin 6 concentration,... |
ORPHA:158061 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... |
OMIM:619126 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections |
ORPHA:139406 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Increased circu... |
ORPHA:505248 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Rec... |
OMIM:214500 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Hypersensitivity pneumonitis, Menin... |
ORPHA:1163 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Invasive parasitic infection, Thromboc... |
ORPHA:158048 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227982 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Antineutrophil antibody positivity, Acute ... |
ORPHA:486 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level |
OMIM:616069 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... |
ORPHA:319218 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... |
OMIM:301310 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia,... |
OMIM:613327 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash |
OMIM:619175 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... |
OMIM:619750 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Recurrent infections |
ORPHA:251009 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... |
OMIM:607143 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Decreased circulating antibody level, Recurr... |
OMIM:226300 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, He... |
ORPHA:99827 |
| Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Lymphocytosis |
ORPHA:79087 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| C1Q Deficiency 2 |
|
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Decreased circulatin... |
OMIM:620321 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Pruritus... |
ORPHA:79301 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly... |
OMIM:610377 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... |
ORPHA:449427 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections, High pala... |
OMIM:605309 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Incre... |
ORPHA:297 |
| Vici Syndrome |
|
Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palat... |
OMIM:242840 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... |
OMIM:618963 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Increased circulating IgG ... |
ORPHA:449395 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral infections, Recurrent pneumon... |
ORPHA:420741 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Cardiomegaly, Decreased circulating antibody level, Hepatosplenome... |
ORPHA:79330 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... |
OMIM:619573 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom... |
OMIM:615688 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level |
ORPHA:100 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... |
OMIM:609814 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan... |
ORPHA:284 |
| Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections |
ORPHA:796 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Recurrent bronchitis, Decreased circulating IgG2 leve... |
OMIM:208900 |
| Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... |
OMIM:609536 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... |
ORPHA:90003 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Inf... |
ORPHA:42642 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... |
OMIM:616622 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chronic hepatitis,... |
ORPHA:3260 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Iridoc... |
OMIM:181000 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Recurrent infections, Keratoconjunctivitis sicca, Erythrod... |
OMIM:601675 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De... |
OMIM:617021 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... |
OMIM:257200 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomega... |
OMIM:620010 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatit... |
ORPHA:2796 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, E... |
ORPHA:99829 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Er... |
OMIM:214900 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Iron defic... |
OMIM:212750 |
| Japanese Encephalitis |
|
Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ... |
ORPHA:79139 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... |
OMIM:606056 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai... |
OMIM:615846 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... |
OMIM:612541 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Eosinophilia, Increased circulating IgG4 level, Keratitis, Orchitis, Retr... |
ORPHA:449563 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... |
OMIM:613860 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor... |
ORPHA:2584 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomega... |
OMIM:619868 |
| Adult-Onset Nemaline Myopathy |
|
High palate, Paraproteinemia, Neuromuscular dysphagia |
ORPHA:171442 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, Hepatosplenomegaly, Decreased circulating... |
ORPHA:470 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circu... |
OMIM:614034 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Tubulointerstitial... |
ORPHA:289390 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... |
OMIM:620005 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Intestinal malrotation, Partial ... |
ORPHA:79324 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra... |
OMIM:210900 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... |
OMIM:246400 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... |
ORPHA:2357 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... |
ORPHA:83617 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Leukocytosis, Cheilitis, Uveitis, Sepsis, Arthritis, Palm... |
ORPHA:247353 |
| Smith-Kingsmore Syndrome |
|
Perisylvian polymicrogyria, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... |
OMIM:618278 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Abnormal lung morp... |
ORPHA:549 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Dysphagia |
ORPHA:77260 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul... |
ORPHA:329918 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... |
ORPHA:545 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair |
ORPHA:66633 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:612783 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... |
ORPHA:77261 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hirsutism, Intention ... |
OMIM:610185 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Bronchie... |
OMIM:612387 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent infectio... |
ORPHA:108 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... |
ORPHA:251380 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... |
OMIM:610984 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... |
ORPHA:99867 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop... |
ORPHA:292 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Circulating immune complexes, Mediast... |
ORPHA:91138 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, High, narrow ... |
ORPHA:33364 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... |
ORPHA:1493 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyramidal sign, Hyperinsuli... |
ORPHA:363400 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Esophageal stricture, Sepsis, Leukopenia, R... |
OMIM:617053 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Howell-Joll... |
ORPHA:85443 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent ... |
OMIM:188400 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Pruritus, Intrahepatic cholestasis, J... |
OMIM:602347 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Poems Syndrome |
|
Abnormality of skin physiology, Lymphadenopathy, Increased circulating antibody level, Thrombocyt... |
ORPHA:2905 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Thro... |
ORPHA:1830 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:276608 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent... |
ORPHA:84064 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... |
ORPHA:809 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Recurrent pneumonia, High palate |
OMIM:615637 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Polymicrogyria, Intestinal polyp, Decreased circulating IgA level |
ORPHA:457485 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Hepatic fibrosis, Ste... |
OMIM:212065 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... |
OMIM:617443 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... |
OMIM:609981 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cirr... |
OMIM:613489 |
| Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct... |
OMIM:253260 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Malabsorption, Pachygyria, Splenomegaly, Pyloric stenosis, Pulm... |
ORPHA:2136 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis |
OMIM:105200 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic ... |
ORPHA:398124 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl... |
ORPHA:64744 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level |
ORPHA:90368 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... |
ORPHA:66628 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Cleft palate, Hepatosplenome... |
OMIM:274000 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
| Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Pruritus, Abnormal lung morphology, P... |
ORPHA:167635 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... |
ORPHA:179494 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe... |
ORPHA:75233 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... |
ORPHA:85414 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... |
ORPHA:293978 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... |
ORPHA:77297 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Splenomegaly, Abnormal pulmonary interstiti... |
ORPHA:99745 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Pruritus, Sepsis, Erythroderma, Chronic otitis media |
ORPHA:313 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Abnormality of the pulmonary artery, Thr... |
ORPHA:290 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent inf... |
OMIM:223370 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Anal atresia, Acne, Abnormality of the tonsils, Impaired T cell func... |
ORPHA:567 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Autoimmunity, Eosinophilia, Hashimoto thyroiditis |
ORPHA:199299 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Autoimmunity, Eosinophilia |
ORPHA:183 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat... |
OMIM:619849 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Meningitis, Lymphadenopathy, Leukopenia, ... |
OMIM:267700 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:617394 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Lissencephaly, Acute leukemia |
ORPHA:281090 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
| Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
| Lead Poisoning |
|
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morp... |
ORPHA:330015 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,... |
ORPHA:1451 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly |
OMIM:602390 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Conjunctivitis, Cirrhosis, Erythroderma |
OMIM:242150 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| Melioidosis |
|
Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain abscess... |
ORPHA:31202 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S... |
ORPHA:905 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... |
OMIM:301072 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:211600 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... |
OMIM:620296 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1, Recurrent infections |
OMIM:300953 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Disseminated vi... |
ORPHA:90051 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Malabsorption |
ORPHA:1954 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Achal... |
ORPHA:3386 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, Pulmonary... |
OMIM:607625 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
| Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Reticulocytosis, Pericarditis, Lymphopenia, Skin rash,... |
ORPHA:99826 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... |
OMIM:257220 |
| Chromomycosis |
|
Keratitis, Pruritus, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivit... |
ORPHA:182 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ... |
OMIM:251260 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Prolonged G2... |
OMIM:227645 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Th... |
OMIM:617710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... |
ORPHA:575 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Pulmonary hypoplasia, Abnormal duodenum... |
ORPHA:2886 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hepati... |
ORPHA:355 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arth... |
ORPHA:779 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils |
ORPHA:93476 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Harlequin Ichthyosis |
|
Recurrent respiratory infections, Erythroderma |
ORPHA:457 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Increased mean platelet volume, Abnormality of the pancreas, Splen... |
OMIM:222470 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Abnormal cortical gyration, Intestinal malrotation, Hiatus hernia, Abnormality of t... |
ORPHA:2538 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, Hepatomegaly, Ly... |
ORPHA:50918 |
| H Syndrome |
|
Psoriasiform dermatitis, Microcytic anemia, Malabsorption, Recurrent pharyngitis, Bronchiectasis,... |
ORPHA:168569 |
| Copper Deficiency, Familial Benign |
|
Anemia, Seborrheic dermatitis |
OMIM:121270 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Intr... |
ORPHA:53035 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Aceruloplasminemia |
|
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, T... |
ORPHA:48818 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Arthritis, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
| Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
| Cowden Syndrome 1 |
|
Lymphopenia, Recurrent infections, Decreased circulating antibody level |
OMIM:158350 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia |
ORPHA:85212 |
| Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Gastroesophageal reflux, Pleural effusion, Ascites |
ORPHA:2414 |
| Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
| Congenital Ichthyosiform Erythroderma |
|
Keratitis, Erythroderma, Pruritus |
ORPHA:79394 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Lymphadenopathy, Infectious e... |
ORPHA:83317 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Malabsorption, Myocarditis, Me... |
ORPHA:3452 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Pulmonary f... |
OMIM:612852 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Abnormal macrophage morphology, Right ventricular hypertrophy |
ORPHA:353 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S... |
ORPHA:91500 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Protruding tongue, Simplified gyral pattern, Decreased circulati... |
OMIM:617062 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Retic... |
OMIM:227646 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia |
OMIM:208920 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs... |
OMIM:301074 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Per... |
ORPHA:32960 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... |
OMIM:235200 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost... |
ORPHA:90291 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Esophageal stenosis, Ab... |
ORPHA:1775 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... |
ORPHA:3132 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Abnormality of complement system, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Encephalitis Lethargica |
|
Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, High palate, Erythroderma |
ORPHA:35173 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Malabsorption, Orchitis, ... |
ORPHA:342 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Prolonged G2... |
OMIM:600901 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia |
OMIM:230600 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... |
OMIM:606003 |
| Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
ORPHA:86816 |
| Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, ... |
OMIM:604173 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy... |
ORPHA:1578 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Meni... |
OMIM:249100 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
| Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Abnormal lung morphology, Paraproteinemia |
ORPHA:439232 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Prolonged G2... |
OMIM:227650 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso... |
ORPHA:264580 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase... |
ORPHA:586 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
OMIM:230800 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Bronchiectasis, Recurrent Haemophilus influenzae infectio... |
ORPHA:60033 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Thrombocytopenia, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperki... |
OMIM:616271 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma |
OMIM:609165 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level |
OMIM:618183 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase |
OMIM:306000 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Recurrent bacterial infections, Steator... |
ORPHA:2176 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Microvesicular hepatic steatosis, Splen... |
OMIM:619418 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Atretic gallbladder, Splenomegaly, Jaundic... |
ORPHA:30391 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... |
OMIM:607626 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet vol... |
OMIM:617718 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Hepatoce... |
ORPHA:79259 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate... |
OMIM:192430 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
| Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic system, En... |
ORPHA:464329 |
| Transketolase Deficiency |
|
Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent infections, Sepsis, Decreased circulating antibody level |
ORPHA:79396 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha... |
OMIM:602782 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Abnormal isohemagglutinin level, Microcytic ane... |
ORPHA:99843 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Anemia, Leukopenia, Hemophag... |
OMIM:222700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... |
ORPHA:900 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary interstitial mor... |
OMIM:617050 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent ... |
OMIM:230900 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis |
ORPHA:863 |
| Monosomy 18Q |
|
High palate, Decreased circulating IgA level |
ORPHA:1600 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Recurrent infe... |
ORPHA:79240 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Allergic conjunctivitis,... |
OMIM:176690 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:3035 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-depen... |
OMIM:612132 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Ascites |
ORPHA:584 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Malab... |
ORPHA:117 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Dysphagia |
OMIM:606002 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma |
OMIM:302960 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
| Lymphatic Filariasis |
|
Circulating immune complexes, Hypereosinophilia |
ORPHA:2035 |
| Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Erythema nodo... |
OMIM:613471 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Enlarged kidney, Seborrheic dermatitis |
ORPHA:276280 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, High palate, Cirrhosis, El... |
OMIM:300868 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Splenomegaly, High, narrow palate, Increased circulating IgE level, Cleft palate, M... |
ORPHA:373 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis |
OMIM:259100 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Pruritus, Portal vein thrombosis,... |
ORPHA:729 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia |
ORPHA:2483 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric stenosis, Hypoplasia... |
OMIM:613177 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Increased circulating interleukin 6 concentration, Autoimmune antibody positivity, ... |
ORPHA:75565 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Eczema, Intestinal malrotation, Pyloric stenosis, Duodenal atre... |
ORPHA:2308 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
| Plague |
|
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, M... |
ORPHA:707 |
| Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate |
ORPHA:2237 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... |
OMIM:276700 |
| Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Crescentic glomerulonephritis, Scl... |
ORPHA:93126 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Fetal ascites, Abnormal stomach morphology, Abnormal lung morphology, Abnorm... |
ORPHA:141127 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Abnorm... |
ORPHA:2072 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Glucose intolerance, Hypertonia, Glycosuria, Spas... |
OMIM:616539 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropa... |
OMIM:619991 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Skin rash |
ORPHA:53715 |
| Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin... |
ORPHA:556 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Bifid uvula |
OMIM:241410 |
| Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased s... |
ORPHA:79277 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, High, narrow palate, Eczema, Seborrheic dermatitis |
ORPHA:369950 |
| Cartilage-Hair Hypoplasia |
|
Neutropenia, Anemia, Decreased circulating antibody level |
ORPHA:175 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased circulating antibody level |
ORPHA:247598 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis |
OMIM:210210 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Pruritus, Splenomegaly, Keratoconjunctivit... |
ORPHA:95159 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunc... |
OMIM:263700 |
| Gaisböck Syndrome |
|
Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Increased ... |
ORPHA:90041 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Pulmonary artery stenosis, Lymphade... |
ORPHA:667 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea... |
ORPHA:565612 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... |
ORPHA:77293 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Abnormality of humoral immunity, Recurrent Staphylococcus aure... |
ORPHA:642 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Aganglionic megacolon, Keratitis, Recurrent upper respiratory ... |
OMIM:308205 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... |
ORPHA:2273 |
| Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Autoimmunity |
ORPHA:221 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... |
ORPHA:95455 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Pulmonary artery sling, Periventricular heterotopia, Asplenia, Pyloric ste... |
ORPHA:261537 |
| Sponastrime Dysplasia |
|
Recurrent pneumonia, Decreased circulating antibody level |
ORPHA:93357 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Acne, Neoplasm of the stomach... |
ORPHA:99889 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Pulmonary artery sling, Periventricular heterotopia, Asplenia, Pyloric ste... |
ORPHA:2152 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Recurrent skin infections, Congenital pyloric atresia, Intestinal a... |
ORPHA:79403 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections |
ORPHA:500150 |
| Williams Syndrome |
|
Colonic diverticula, Recurrent respiratory infections, Recurrent urinary tract infections, Peptic... |
ORPHA:904 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Recurrent otitis media, Recurrent infections, Decreased circulating antibody level |
ORPHA:261552 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
