Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... |
OMIM:618534 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Immunodeficiency 27A |
|
Anemia, Diarrhea, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Anorexia, Lymp... |
OMIM:209950 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased circulating antibody level... |
OMIM:617514 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Decreased CD4:CD8 ratio, Diarrhea, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphaden... |
OMIM:618495 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Eczema, Co... |
OMIM:607271 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Chronic diarrhea, T lymphocytopenia, Erythroderma, Decreased lymphocyte proliferation in response... |
ORPHA:169154 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... |
OMIM:618982 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency 18 |
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Defective T cell proliferation, Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, D... |
OMIM:615615 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
Immunodeficiency, Common Variable, 11 |
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Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... |
OMIM:615767 |
Immunodeficiency 14B, Autosomal Recessive |
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Chronic diarrhea, Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell... |
OMIM:619281 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... |
OMIM:308230 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Hepatomeg... |
OMIM:269840 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Diarrhea 8, Secretory Sodium, Congenital |
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Polyhydramnios, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, El... |
OMIM:616868 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating tota... |
OMIM:300400 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Impaired lymphocyte transformation wi... |
OMIM:617006 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... |
OMIM:619802 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia, Recurrent viral ... |
OMIM:619773 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... |
OMIM:618394 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Fail... |
OMIM:615285 |
Inflammatory Bowel Disease 29 |
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Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Chronic diarrhea, Diarrhea, Skin rash, Abdominal pain, Neutrophilia, Lymphadenopathy, Increased c... |
OMIM:617099 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody lev... |
OMIM:618969 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Folliculitis, Hepatitis, Erythema nodosum, Decreased circulating antibody level, Pancytopenia, In... |
OMIM:300635 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Fai... |
OMIM:618048 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, T lymphocytopenia, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T c... |
ORPHA:277 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
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Inflammation of the large intestine |
OMIM:612278 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Hypophosphatemia, Hypocalcemia, Abn... |
ORPHA:398063 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneu... |
ORPHA:276 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Decreased circulating total IgM, Neu... |
OMIM:607594 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... |
OMIM:616098 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Diarrhea, Bronchiectasis, T lymphocytopenia, B lymphocytopenia... |
OMIM:618108 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Oral ulcer, Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, He... |
OMIM:613148 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... |
OMIM:616100 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Absent isohemagglutinin level, Diarrhea, Recurrent otitis media, Abse... |
OMIM:613501 |
Autoinflammation With Infantile Enterocolitis |
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Reduced natural killer cell count, Anemia, Enterocolitis, Villous atrophy, Reduced natural killer... |
OMIM:616050 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Aphthous ulcer, Abdominal pain, Ulcerat... |
OMIM:266600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Diarrhea, Weight loss, Decreased circulating antibody level, Malabsorption, S... |
ORPHA:33355 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Diarrhea, Chronic oral candidiasis, Decreased lymphocyte proliferation in response ... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent ... |
OMIM:240500 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... |
OMIM:247800 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections |
OMIM:613860 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Ulcerative colitis, Leukocytosis, Bloody diarrhea |
OMIM:619398 |
Immunodeficiency 76 |
|
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... |
OMIM:619164 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunoglobulin A Deficiency 2 |
|
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Abnormal lymp... |
OMIM:609529 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis ... |
OMIM:613502 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Chronic diarrhea, Colitis, Pneu... |
ORPHA:911 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... |
OMIM:617388 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Decreased circulating to... |
OMIM:612692 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Psoriasiform derma... |
OMIM:606367 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Au... |
ORPHA:444463 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema, Recurrent otitis media, Chronic muc... |
OMIM:608971 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... |
OMIM:615592 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chronic diarrhea, Thro... |
OMIM:614700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Irritability, Pancytopenia, Hepatospleno... |
OMIM:603553 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morphology, Hypoca... |
ORPHA:100025 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Vomiting, Diarrhea, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, ... |
OMIM:260920 |
Progressive Familial Intrahepatic Cholestasis |
|
Cognitive impairment, Malabsorption, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomeg... |
ORPHA:172 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... |
ORPHA:2442 |
Boutonneuse Fever |
|
Leukopenia, Diarrhea, Skin rash, Abdominal pain, Lymphadenopathy, Nausea, Increased circulating I... |
ORPHA:83313 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, T ly... |
OMIM:619510 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... |
OMIM:300853 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymph... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Diarrhea, T lymphocytopenia, B lymph... |
OMIM:601457 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool ... |
ORPHA:90362 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:608106 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Malar rash, Skin rash, Lymphopenia, Myositis, Pustule, Failure to thrive, Fol... |
OMIM:615934 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Ec... |
OMIM:304790 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Hypoplasia of the thymus, Small for gestational age, Decreased prop... |
OMIM:617241 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T ... |
OMIM:301082 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased proportion of class-switched memo... |
OMIM:617765 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... |
OMIM:613500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duode... |
OMIM:243150 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Malabsorption, Abnormal intestine morphology, Hypoproteinemia, Thromb... |
OMIM:226300 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... |
OMIM:312863 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Recurrent bronchitis, Enterocutaneous ... |
OMIM:612567 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Granuloma, Eczema, Lymphopeni... |
OMIM:618935 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Failure t... |
OMIM:616740 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... |
OMIM:619707 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Back pain, Anemia, Osteomyelitis, Recurrent fractures, Hyp... |
ORPHA:210110 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Partial absence of speci... |
OMIM:619652 |
Immunodeficiency 40 |
|
Intermittent diarrhea, T lymphocytopenia, Chronic oral candidiasis, Interstitial pneumonitis, Red... |
OMIM:616433 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Villous atrophy, Malabsorption, Chronic mucocutaneous candidiasis, Chol... |
OMIM:209920 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur... |
OMIM:600802 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Infectious encephalitis, Fulminant hepatitis, Reduced natural killer cell activi... |
OMIM:308240 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Lymphadenopathy, Intestinal o... |
ORPHA:343 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Wiskott-Aldrich Syndrome |
|
Diarrhea, Eczema, Recurrent sinusitis, Eosinophilia, Chronic diarrhea, Hematemesis, Decreased pro... |
OMIM:301000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Pericardial effusion, Elevated circulating creatine kinase concentratio... |
ORPHA:26793 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Angiostrongyliasis |
|
Hypereosinophilia, Vomiting, Poor appetite, Abdominal pain, Projectile vomiting, Increased circul... |
ORPHA:74 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Congestive heart failure, Elevat... |
OMIM:615895 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Decreased circulating total IgM, ... |
ORPHA:35078 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Increased circulating ... |
ORPHA:507 |
Mantle Cell Lymphoma |
|
Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Decreased T cell a... |
OMIM:618213 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... |
OMIM:615190 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Immunodeficiency 22 |
|
Anemia, Diarrhea, Chronic oral candidiasis, Decreased circulating total IgM, Protracted diarrhea,... |
OMIM:615758 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Linear Iga Dermatosis |
|
Epistaxis, Inflammation of the large intestine, Oral ulcer |
ORPHA:46488 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... |
ORPHA:2494 |
Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Cough, Dysphag... |
ORPHA:930 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to t... |
OMIM:226990 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, R... |
ORPHA:141152 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Dengue Fever |
|
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... |
ORPHA:99828 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Cognitive impairment, Abnormal liv... |
ORPHA:64743 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
Schnitzler Syndrome |
|
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hep... |
ORPHA:37748 |
Wolman Disease |
|
Hepatic failure, Anemia, Nausea and vomiting, Cachexia, Steatorrhea, Abdominal distention, Malnut... |
ORPHA:75233 |
Immunodeficiency 69 |
|
Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis,... |
OMIM:618963 |
Melioidosis |
|
Septic arthritis, Respiratory tract infection, Prostatitis, Abnormal parotid gland morphology, He... |
ORPHA:31202 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Porphyria, Acute Hepatic |
|
Abdominal colic, Failure to thrive, Vomiting, Hemolytic anemia |
OMIM:612740 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... |
ORPHA:555905 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Pyloric stenosis, Lymphopenia, Failure to thrive, Meckel diverticulum, Incre... |
OMIM:616395 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Myopathy, Tubular Aggregate, 2 |
|
Falls, Spinal rigidity, Elevated circulating creatine kinase concentration, Ankle flexion contrac... |
OMIM:615883 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
Multiple Myeloma |
|
Anemia, Weight loss, Decreased circulating antibody level, Functional abnormality of the gastroin... |
ORPHA:29073 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Diarrhea, Bronchiectasis, Bowel irritability, Gastritis, Colitis, Recurrent sk... |
OMIM:619381 |
Chédiak-Higashi Syndrome |
|
Inability to walk, Pericardial effusion, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abno... |
ORPHA:167 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Hepatomegaly, Colitis, Erythroderma, Decreased liver functio... |
ORPHA:540 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Enterocolitis, Diarrhea |
OMIM:260005 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Cachexia, Eczema, Myositis, Abnormal intestine morphology, Gast... |
ORPHA:37042 |
Johanson-Blizzard Syndrome |
|
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Malabsorption, Anal atre... |
ORPHA:2315 |
Eosinophilic Gastroenteritis |
|
Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Elevated circulati... |
ORPHA:2070 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Feeding difficulties, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... |
ORPHA:482 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Nausea and vomiting, Abdominal pain, Inflammation of the large intesti... |
ORPHA:26790 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Aggressive behavior, Irritability, Hepatocellular carcinoma, Acute hyperammonem... |
ORPHA:247585 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antibody level,... |
ORPHA:1572 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Hepatomegaly,... |
OMIM:618805 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Diarrhea, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ... |
ORPHA:572 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
Immunodeficiency 50 |
|
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Absent specific antibody response, Eosinophilia, Chronic diarrhea, Hepatomegaly, Pneumo... |
OMIM:102700 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Increased bone mineral density, Ventricular arrh... |
ORPHA:36913 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ... |
ORPHA:158061 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating crea... |
OMIM:208920 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Diarrhea, B lymphocytopenia, Decreased circulating total IgM, Decreased circulating ... |
OMIM:614069 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Joint hypermobility, Hepatic steatosis, Scoliosis, Hypertriglyceridemia, Micr... |
OMIM:619013 |
Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Short neck, Scoliosis, Decreased skull ossification, ... |
ORPHA:3319 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Anemia, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cach... |
ORPHA:2930 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Coliti... |
OMIM:604416 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
OMIM:607250 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... |
OMIM:242700 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Sclerosing chola... |
ORPHA:2137 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Weight loss, Nausea and vomiting, Abdominal pain, Neoplasm of the pancreas, Cachexia, Abn... |
ORPHA:83469 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... |
ORPHA:449400 |
Thymic Aplasia |
|
Diarrhea, T lymphocytopenia, Chronic oral candidiasis, Malabsorption, Coombs-positive hemolytic a... |
ORPHA:83471 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... |
OMIM:241600 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Malabsorption, Arthritis, Decreased circulating IgG2 level, Recu... |
OMIM:300310 |
X-Linked Agammaglobulinemia |
|
Anemia, Osteomyelitis, Malabsorption, Arthritis, Hepatitis, Hypocalcemia, Abnormality of the lymp... |
ORPHA:47 |
Transcobalamin Ii Deficiency |
|
Vomiting, Diarrhea, Reticulocytopenia, Decreased circulating total IgM, Pancytopenia, Erythroid h... |
OMIM:275350 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Diarrhea, Perianal abscess, Increased circulating interleukin ... |
OMIM:301074 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Weight loss, Abdominal ... |
ORPHA:98850 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea |
OMIM:614102 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Anorexia, Lymphadenopathy, Th... |
ORPHA:824 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hyp... |
OMIM:235255 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... |
ORPHA:3392 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... |
OMIM:615607 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Weight loss, Abnormality of ... |
ORPHA:91139 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Peptic ulcer, Hyperuricemia, Increased red b... |
ORPHA:90041 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Splenomegaly, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Hy... |
OMIM:259700 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropathy, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Spastic gait, Fat malabsorption, Type I diabetes mellitu... |
ORPHA:96180 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis |
ORPHA:88643 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Steatorrhea, Ataxia, Rickets, Celiac disease, Thrombocytosis, Macrocyti... |
OMIM:212750 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration, Tachycardia |
OMIM:221400 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis |
OMIM:616744 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Perimembranous ventricular septal defect, Camptodactyly, Short neck, Cholestasis, Hepatom... |
OMIM:608104 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Diarrhea, Malabsorption, Ma... |
OMIM:242860 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Diarrhea, Hepatocellular necrosis, Elliptocyt... |
OMIM:618278 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... |
ORPHA:1667 |
Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypoglycemia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Macroglossia, Ataxia... |
ORPHA:79320 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... |
ORPHA:53 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Good Syndrome |
|
Thymoma, Anemia, Diarrhea, Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplas... |
ORPHA:169105 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Nausea and vomiting, Decreased circulati... |
ORPHA:90045 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Immunodeficiency 23 |
|
Esophageal stricture, High palate, Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Increased... |
OMIM:615816 |
Gitelman Syndrome |
|
Pericardial effusion, Neoplasm of the pancreas, Palpitations, Glucose intolerance, Type II diabet... |
ORPHA:358 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Babesiosis |
|
Leukopenia, Hepatic failure, Hemolytic anemia, Nausea and vomiting, Jaundice, Anorexia, Hepatomeg... |
ORPHA:108 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Lymphad... |
ORPHA:70482 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Abdominal pain, Cachexia, Abdominal distention, Malnutrition, Gastroi... |
OMIM:613662 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hep... |
ORPHA:292 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Neutropenia, Bronchiectasis, Decreased circulating IgG level |
OMIM:193670 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Anxiety, Hypocalcemia, Hyperka... |
ORPHA:94093 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Diarrhea, Recurrent aspiration pneumonia, Hepatosplenomegaly, Chronic hepatic ... |
ORPHA:79124 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Diarrhea, Nausea and vomiting, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Immunoglobulin A Deficiency 1 |
|
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract |
OMIM:137100 |
Majeed Syndrome |
|
Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Malabsorption, Synovitis, Cache... |
ORPHA:77297 |
Abetalipoproteinemia |
|
Fat malabsorption, Reticulocytosis, Hepatic steatosis, Steppage gait, Hepatomegaly, Hypocholester... |
ORPHA:14 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, High palate, Decreased circulating total IgM, Bronchiectasis, ... |
OMIM:619752 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... |
ORPHA:1303 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Ventricular septal defect, Pulmonary lymphangiectasia, Hypocalcemia, Hepatosplenomeg... |
ORPHA:1655 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones... |
ORPHA:232 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, Hypercalcemia,... |
ORPHA:69077 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Tempi Syndrome |
|
Increased hematocrit, Ascites, Increased circulating IgG level, Polycythemia |
ORPHA:284227 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... |
ORPHA:48104 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Anemia, Vomiting, Cirrhosis, Diarrhea, Weight loss, Small intestinal dys... |
ORPHA:298 |
Alg1-Cdg |
|
Cardiomyopathy, Kyphosis, Abnormality of the gastrointestinal tract, Limitation of joint mobility... |
ORPHA:79327 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Flexion contracture, Inability to walk, Macroglossia, Atrial septal defect, C... |
OMIM:617303 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
Isolated Agammaglobulinemia |
|
Anemia, Diarrhea, Malabsorption, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnor... |
ORPHA:229717 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Coombs-positive he... |
OMIM:614034 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Glossitis, Xerostom... |
OMIM:175500 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Absent circu... |
OMIM:619705 |
Intrinsic Factor Deficiency |
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Reduced haptoglobin level, Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distr... |
OMIM:261000 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Rosaï-Dorfman Disease |
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Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Autoinflammatory Disease, Systemic, X-Linked |
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Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
Ebola Hemorrhagic Fever |
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Leukopenia, Vomiting, Diarrhea, Poor appetite, Hepatitis, Increased circulating antibody level, A... |
ORPHA:319218 |
Spastic Paraplegia And Evans Syndrome |
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Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Asplenia, Splenomegaly, HbS hemoglobin, Abdominal pain, Reticulocytosis, Persistence of hemoglobi... |
ORPHA:251380 |
Thymoma |
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Neoplasm of the gastrointestinal tract, Weight loss, Leukemia, Rheumatoid arthritis, Decreased ci... |
ORPHA:99867 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Increased bone density with cystic c... |
ORPHA:94089 |
Immunodeficiency 58 |
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Recurrent aphthous stomatitis, Chronic diarrhea, Decreased T cell activation, Bronchiectasis, All... |
OMIM:618131 |
Hepatocellular Carcinoma |
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Hypotension, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Abnormal rectum morpholo... |
ORPHA:88673 |
Young Syndrome |
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Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... |
OMIM:617591 |
Lymphoproliferative Syndrome 2 |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Glutamate-Cysteine Ligase Deficiency |
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Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Ciliary Dyskinesia, Primary, 42 |
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Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Ciliary Dyskinesia, Primary, 21 |
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Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Mucus Inspissation Of Respiratory Tract |
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Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infection... |
OMIM:253240 |
Harderoporphyria |
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Vomiting, Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prol... |
OMIM:618892 |
Variant Abeta2M Amyloidosis |
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Gastrointestinal infarctions, Abnormality of the tongue, Abnormal salivary gland morphology, Inte... |
ORPHA:314652 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis |
OMIM:618806 |
Immunodeficiency 81 |
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Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iil |
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Cirrhosis, Pancytopenia, Inflammation of the large intestine, Failure to thrive, Impaired T cell ... |
OMIM:614576 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Chronic oral candidia... |
OMIM:150550 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Short neck, Hypocalcemia, Osteoporosis |
OMIM:612462 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... |
OMIM:613673 |
Igg4-Related Submandibular Gland Disease |
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Prostatitis, Enlarged lacrimal glands, Cholangitis, Periorbital edema, Abnormality of the submand... |
ORPHA:449432 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Bronchiectasis, Macroglossia, Eczema, Recurrent otitis media, Eosinophilia, Chronic diarrhea, Ker... |
OMIM:618523 |
Glutathione Peroxidase Deficiency |
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Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
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Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Nephrotic Syndrome, Type 1 |
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Gastroesophageal reflux, Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... |
OMIM:613752 |
Thrombocytopenia 1 |
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Eczema, Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytop... |
OMIM:313900 |
Lactose Intolerance, Adult Type |
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Flatulence, Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Liver Disease, Severe Congenital |
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Subvalvular aortic stenosis, Systolic heart murmur, Portal inflammation, Hyperinsulinemic hypogly... |
OMIM:619991 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Gastroesophageal reflux, Anemia, Esophageal stricture, Flexion contracture, Anxiety, Ankyloglossi... |
ORPHA:89842 |
Marburg Hemorrhagic Fever |
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Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
Analbuminemia |
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Hypotension, Elevated circulating transferrin concentration, Increased LDL cholesterol concentrat... |
OMIM:616000 |
Mounier-Kühn Syndrome |
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Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Rec... |
ORPHA:217390 |
Beta-Thalassemia |
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Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... |
OMIM:615558 |
Brooke-Spiegler Syndrome |
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Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Al Amyloidosis |
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Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Abnormal P wave, Howell-Jolly bodies, Abnor... |
ORPHA:85443 |
Autosomal Agammaglobulinemia |
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Conjunctivitis, Osteomyelitis, Diarrhea, Bronchiectasis, High palate, Hepatitis, Skin rash, Arthr... |
ORPHA:33110 |
Dehydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Immunodeficiency 65, Susceptibility To Viral Infections |
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Gingivitis, Recurrent gastroenteritis, Stomatitis, Bronchiectasis |
OMIM:618648 |
Autosomal Dominant Hypophosphatemic Rickets |
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Osteomalacia, Hypophosphatemia, Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
Diarrhea 12, With Microvillus Atrophy |
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Respiratory tract infection, Vomiting, Dependency on parenteral nutrition, Villous atrophy, Bronc... |
OMIM:619445 |
Steinert Myotonic Dystrophy |
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Inability to walk, Hypercholesterolemia, Aggressive behavior, Falls, Insulin resistance, Colon ca... |
ORPHA:273 |
Selective Igm Deficiency |
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Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Timothy Syndrome |
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Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Prolonged QT interval, Cardiomegal... |
OMIM:601005 |
Ciliary Dyskinesia, Primary, 33 |
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Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Amoebiasis Due To Entamoeba Histolytica |
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Abnormal pericardium morphology, Anemia, Liver abscess, Lung abscess, Congestive heart failure, C... |
ORPHA:67 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Short neck, Osteoporosis, Subcutane... |
OMIM:103580 |
Immunodeficiency 7 |
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Hypereosinophilia, Diarrhea, Chronic oral candidiasis, Recurrent otitis media, Autoimmune hemolyt... |
OMIM:615387 |
Aicardi-Goutieres Syndrome 9 |
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Anemia, Hepatic fibrosis, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, H... |
OMIM:619487 |
Cyclic Neutropenia |
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Enterocolitis, Perianal abscess, Periodontitis, Abdominal pain, Decreased eosinophil count, Perit... |
ORPHA:2686 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Cognitive impairment, Kyphosis, Mental deterioration, Ataxia, Increased skull ossification, Crani... |
OMIM:618476 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Muscular Hypertonia, Lethal |
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Pneumonia, Respiratory distress |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 23 |
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Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... |
OMIM:615451 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased circulating antibody level, Failure to thrive, Decreased circulating IgA level, Recurre... |
OMIM:617744 |
Aicardi-Goutieres Syndrome 7 |
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Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hemateme... |
OMIM:615846 |
Osteopetrosis, Autosomal Recessive 5 |
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Anemia, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Irritability, Hypocalc... |
OMIM:259720 |
Congenital Disorder Of Glycosylation, Type Ia |
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Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Kyphosis, Villous atrophy, Pericardial eff... |
OMIM:212065 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
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Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co... |
OMIM:613960 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
Gamma-A-Globulin, Defect In Assembly Of |
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Decreased circulating IgA level |
OMIM:137050 |
Refractory Anemia With Excess Blasts |
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Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... |
ORPHA:86839 |
Pearson Syndrome |
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Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Dysphagia, Thrombo... |
ORPHA:699 |
Gastroesophageal Reflux |
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Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... |
ORPHA:69126 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... |
OMIM:224120 |
Mevalonic Aciduria |
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Failure to thrive in infancy, Anemia, Vomiting, Diarrhea, Skin rash, Morbilliform rash, Increased... |
OMIM:610377 |
Blue Diaper Syndrome |
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Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Coproporphyria, Hereditary |
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Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Constipation, Hep... |
OMIM:121300 |
Folate Malabsorption, Hereditary |
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Leukopenia, Diarrhea, Malabsorption, Feeding difficulties in infancy, Failure to thrive, Thromboc... |
OMIM:229050 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Shigellosis |
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Bloody diarrhea, Tenesmus, Thrombocytopenia, Pneumonia, Acute colitis, Splenic abscess, Abscess, ... |
ORPHA:810 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Anorexi... |
OMIM:611590 |
Cartilage-Hair Hypoplasia |
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Abnormal cardiac septum morphology, Heart block, Short neck, Hepatomegaly, Limited elbow extensio... |
ORPHA:175 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Flexion contracture, Inability to walk, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiom... |
ORPHA:505248 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... |
OMIM:615617 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 31C |
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Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Bronchiectasis, Villous atrophy, Int... |
OMIM:614162 |
Tracheobronchopathia Osteochondroplastica |
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Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
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Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive, Feeding difficulties |
OMIM:612075 |
Hypocalcemia, Autosomal Dominant 2 |
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Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Small for gestational age, Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulat... |
OMIM:215250 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight ... |
ORPHA:79078 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacte... |
ORPHA:2688 |
Glutathione Synthetase Deficiency |
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Hemolytic anemia |
ORPHA:32 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia... |
OMIM:615214 |
Insulin-Resistance Syndrome Type B |
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Leukopenia, Biliary cirrhosis, Decreased circulating complement factor B concentration, Decreased... |
ORPHA:2298 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
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Sterile abscess, Osteomyelitis, High palate, Bronchiectasis, Chronic oral candidiasis, Recurrent ... |
OMIM:618282 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Ciliary Dyskinesia, Primary, 46 |
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Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Oculoskeletodental Syndrome |
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Thoracic kyphosis, Elbow flexion contracture, Hypocalcemia, Macroglossia, Lacunar stroke, Scolios... |
OMIM:618440 |
Solitary Rectal Ulcer Syndrome |
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Episodic abdominal pain, Anemia, Intermittent diarrhea, Bloody diarrhea, Rectal prolapse, Decreas... |
ORPHA:209964 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Chilblain Lupus |
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Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... |
ORPHA:90280 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Ri... |
OMIM:607765 |
Secondary Intestinal Lymphangiectasia |
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