Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency 36 |
|
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, E... |
OMIM:616005 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal ma... |
ORPHA:98849 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, ... |
ORPHA:52416 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... |
OMIM:300635 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... |
OMIM:133180 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:153600 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, T lymphoc... |
OMIM:618108 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... |
OMIM:618394 |
Immunodeficiency 105 |
|
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:619924 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulator... |
OMIM:619802 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Monocytosis, Leukopenia, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocel... |
OMIM:616871 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Weight loss, Acute my... |
ORPHA:71493 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media |
OMIM:615617 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Lymphoproliferative... |
OMIM:615897 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... |
ORPHA:911 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... |
ORPHA:277 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Splenomegaly, Recurrent skin infectio... |
OMIM:612840 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anorexia, Extramedullary hematopoiesis, Hepatosplenomeg... |
ORPHA:824 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Pancytopenia, Thrombocytosi... |
OMIM:604416 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Feeding difficultie... |
OMIM:616050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... |
ORPHA:158057 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... |
OMIM:269840 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Mastocytosis, Sarcoma, Chronic leukemia, Gastroin... |
ORPHA:98292 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Chronic oral candidiasis, Hepatomegaly, Skin ... |
OMIM:300400 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mast cells, Pa... |
ORPHA:98850 |
Sweet Syndrome |
|
Oligoarthritis, Neoplasm, Pustule, Neutrophilia, Leukocytosis, Breast carcinoma, Acne inversa, St... |
ORPHA:3243 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, T lym... |
OMIM:601457 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... |
OMIM:300853 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Thrombocytopenia, Decreased specific antibody re... |
OMIM:614700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... |
ORPHA:33355 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... |
OMIM:619041 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, T lymphocytop... |
OMIM:618806 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatos... |
OMIM:618935 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocy... |
OMIM:618963 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Anorexia, Lymphoma, Weight loss, L... |
ORPHA:86893 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... |
ORPHA:906 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intes... |
OMIM:617718 |
Immunodeficiency 64 |
|
Failure to thrive, B-cell lymphoma, Decreased circulating IgG level, Increased circulating IgA le... |
OMIM:618534 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:607271 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... |
ORPHA:2442 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularit... |
OMIM:605724 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... |
OMIM:618204 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, T-cell lymphoma, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, En... |
OMIM:243150 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... |
OMIM:608809 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Lymphopenia, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:619510 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... |
OMIM:615190 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased ci... |
ORPHA:169154 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... |
OMIM:209920 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Abdominal pain, Re... |
ORPHA:486 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Basal... |
ORPHA:3261 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Abdominal pain, Membranoproliferat... |
ORPHA:91139 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Recurrent ski... |
ORPHA:2686 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... |
OMIM:212050 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Lymphocytosis, Abdominal pain, Skin rash, Diarrhea, Inflammation of t... |
OMIM:301074 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Eosino... |
OMIM:618999 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormall... |
OMIM:242700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Recurrent otitis media, Lymphopenia, Absent peripheral lymph nodes in presence... |
OMIM:600802 |
Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytope... |
OMIM:619151 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, Abdominal pain, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Anorexia, Cervical lymphadenopathy, Acute monocy... |
ORPHA:514 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... |
ORPHA:217390 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Weight loss, Nausea and vomiting, Jaundice |
ORPHA:79238 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... |
OMIM:618986 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... |
ORPHA:26790 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... |
ORPHA:42642 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Diarrhea, Incr... |
OMIM:618495 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int... |
ORPHA:100025 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Anorexia, Lymphoma, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Abdominal distention, Hepatomegaly, Abdominal pain, Ovarian neop... |
ORPHA:83469 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Diarrhea, Abscess, B lymphocytopenia, Intermittent thromb... |
OMIM:150550 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... |
ORPHA:507 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Thymoma |
|
Neoplasm, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Aplastic anemia... |
ORPHA:99867 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... |
OMIM:616100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Cirrhosis, Mediastinal lymphadenopathy, Aplastic anemia, Myeloid leukemi... |
OMIM:614742 |
Hereditary Spherocytosis |
|
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Splenomegaly, Spherocytosis, ... |
ORPHA:822 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Acute otitis media, Lack of T cell function, Recurrent infection of the gastrointestinal tract, C... |
ORPHA:35078 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Skin rash, Splenomega... |
ORPHA:540 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... |
ORPHA:37042 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Extramedull... |
OMIM:259710 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop... |
OMIM:617241 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... |
OMIM:619381 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Leukocytosis, Atopic dermatitis, Diarrhea, Abnormalit... |
ORPHA:2070 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepat... |
OMIM:308240 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... |
ORPHA:231222 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Skin rash, Splenomegaly, Hemophagocytosis, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Leukocytosis, Diarrhea, Constrictive pericarditis... |
ORPHA:67 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Wolman Disease |
|
Abdominal distention, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Anemia, Cachexia,... |
ORPHA:75233 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... |
ORPHA:48104 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Chronic oral candidiasis, Chronic decreased cirulat... |
OMIM:615607 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... |
ORPHA:79456 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal... |
OMIM:612260 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgE level, Increased circula... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... |
ORPHA:54251 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... |
ORPHA:572 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, ... |
OMIM:602450 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Increased circulating I... |
ORPHA:37748 |
N Syndrome |
|
Neoplasm, Leukemia |
OMIM:310465 |
Chilblain Lupus |
|
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, S... |
ORPHA:90280 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o... |
ORPHA:276 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Thyroiditis, Decreased circulating IgA level, Decreased specific ant... |
OMIM:606367 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Ascites, Abno... |
ORPHA:2198 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency 16 |
|
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Abdominal pain, Splenomegaly |
OMIM:118830 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Decrea... |
OMIM:619652 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Splenomegaly, Anemia, Chronic otitis media, Abnormal lymphocyte morpholo... |
ORPHA:47612 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, L... |
OMIM:613011 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Diarrhea, Eosinophilia, ... |
OMIM:603554 |
Indolent Systemic Mastocytosis |
|
Abdominal cramps, Hepatomegaly, Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopap... |
ORPHA:98848 |
Pgm3-Cdg |
|
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow ... |
ORPHA:443811 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Anorexia, Lymphoma, Bone marrow hypocellularity,... |
ORPHA:391 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Abscess, Vomiting, Myocarditis, Choles... |
ORPHA:810 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of th... |
ORPHA:229717 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... |
OMIM:240500 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... |
ORPHA:398063 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Extramedulla... |
ORPHA:79303 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Abdominal pain, Renal neoplasm, Anemia, Neoplasm of the central nervous sy... |
ORPHA:69077 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Weight loss, ... |
ORPHA:545 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, H... |
ORPHA:77297 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Cardiomegaly |
ORPHA:88643 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis, ... |
OMIM:611762 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Chronic oral candidiasis, Lymphopenia, Decreased circulatin... |
ORPHA:169160 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anem... |
ORPHA:47 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Feeding difficulties, Splenomegaly, Extramedullary hematopoies... |
ORPHA:231226 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Decreased circulating IgA level, Hepatomegaly, Lymphope... |
ORPHA:331206 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ... |
OMIM:618213 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Decreased ci... |
OMIM:301078 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Feeding difficu... |
ORPHA:231214 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Abdominal pain, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenop... |
OMIM:618852 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Neoplasm of the... |
ORPHA:636 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Abnormal lymp... |
ORPHA:2584 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Hodgkin lymphoma, Lymphopenia, Decreased circulating IgA level, Dec... |
OMIM:208900 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Eczema, Lymphadeniti... |
OMIM:615895 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Neoplasm, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, H... |
ORPHA:2137 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Neoplasm of the larynx,... |
ORPHA:100083 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Hepatosplenomegaly, Diarrhea, Absence of lymph node germ... |
ORPHA:79124 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... |
OMIM:614493 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Vomiting, Jaundice |
OMIM:230350 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... |
ORPHA:86839 |
Sepsis In Premature Infants |
|
Decreased liver function, Decreased body weight, Abdominal distention, Enterocolitis, Hepatomegal... |
ORPHA:90051 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity |
OMIM:605309 |
Wiskott-Aldrich Syndrome |
|
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal ... |
OMIM:301000 |
Isolated Congenital Hypoglossia/Aglossia |
|
Feeding difficulties, Cleft palate, Aspiration pneumonia, Hamartoma, Weight loss, Nasogastric tub... |
ORPHA:141152 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Immunodeficiency 58 |
|
Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pyl... |
OMIM:618131 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Malabsorption, Sinusitis, Decreased circulating IgA level, Macroglossia, Diarr... |
OMIM:242860 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis |
ORPHA:86884 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... |
ORPHA:90362 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... |
ORPHA:811 |
Kaposi Sarcoma |
|
Skin rash, Hemangioma, Lymphoproliferative disorder, Diarrhea, Abnormality of the spleen, Abnorma... |
ORPHA:33276 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... |
ORPHA:131 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Lig4 Syndrome |
|
Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... |
OMIM:614576 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Weight loss |
ORPHA:3165 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte tra... |
OMIM:619313 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss |
ORPHA:930 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... |
OMIM:614602 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Neoplasm of the liver, Jaundice, Ab... |
ORPHA:1333 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... |
ORPHA:3260 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Neoplasm, Hepatomegaly, Abdominal pain, Stomach cancer, Anorexia, Splenomegaly, Ca... |
ORPHA:2930 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Lymphoma, Abnor... |
ORPHA:33226 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Eosinophilia, Decreased ci... |
OMIM:243700 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss, Mediastinal lymphadenopathy, Lymphocyti... |
ORPHA:133 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... |
OMIM:102700 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... |
ORPHA:39041 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... |
ORPHA:125 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Hypersegmentation of neutroph... |
ORPHA:35858 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration pneumon... |
OMIM:230900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Abdominal pain, Feeding difficulties, Anorexia, Sp... |
ORPHA:79312 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... |
ORPHA:70593 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis |
OMIM:615947 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Polycythemia Vera |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Myelodysplasia, Portal hypertension, Gastrointestinal... |
ORPHA:729 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hepatic failure, Extramedullary hematopoiesis, Hepatosp... |
OMIM:259720 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Enterocolitis, Neutropenia in presence of anti... |
ORPHA:391487 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss, Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure |
ORPHA:882 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss, Abnormal eosinophil morphology |
ORPHA:1164 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Malabsorption, Eczematoid dermatitis, Recurrent infection ... |
ORPHA:83471 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, E... |
ORPHA:3162 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Anemia, Arthriti... |
ORPHA:905 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Abnormal stomach morphology |
ORPHA:281090 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 54 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Lymphadenopathy, Red... |
OMIM:609981 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Leukocytosis, Peri... |
ORPHA:90038 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... |
OMIM:620045 |
Coproporphyria, Hereditary |
|
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Increased fecal cop... |
OMIM:121300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumonitis, Eosinophilia,... |
ORPHA:139402 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Combined Saposin Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly |
OMIM:611721 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... |
ORPHA:100026 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Diarrhea, Panniculitis |
OMIM:615758 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Enchondroma, Hepatosplenomegaly, Myositis, Chilblains, Arth... |
ORPHA:51 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Intest... |
ORPHA:263665 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Per... |
OMIM:260400 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Increased circulating antibody level, Hepatomegaly, Lymphopenia, Sk... |
OMIM:617591 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... |
ORPHA:1572 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Turcot Syndrome With Polyposis |
|
Melena, Constipation, Hepatoblastoma, Diarrhea, Vomiting, Soft tissue neoplasm, Hematochezia, Bas... |
ORPHA:99818 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Myeloproliferative disorder, Diarrhea, Episod... |
ORPHA:100924 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Linear Iga Dermatosis |
|
Renal neoplasm, Bladder neoplasm, Inflammation of the large intestine |
ORPHA:46488 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... |
ORPHA:53035 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... |
OMIM:617780 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... |
ORPHA:298 |
Zygomycosis |
|
Melena, Pancreatitis, Unusual gastrointestinal infection, Gastritis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr... |
ORPHA:158029 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esopha... |
OMIM:278000 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly |
OMIM:226990 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... |
OMIM:613662 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Anorexia, Hepatic failure, Leukopenia, Hemolytic anemia, Nausea and v... |
ORPHA:108 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Card... |
OMIM:269920 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... |
ORPHA:388 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Constipation, Hepatomegaly, Splenomegaly, Vomiting, Fe... |
OMIM:257200 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Abdominal pain, Intestinal obstruction, Increased circulati... |
ORPHA:449400 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:259730 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... |
ORPHA:93941 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Pyloric stenosis, Abnormality of neutro... |
ORPHA:381 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Acute Promyelocytic Leukemia |
|
Neutropenia, Abdominal pain, Leukocytosis, Anorexia, Leukopenia, Thrombocytopenia, Stomatitis, We... |
ORPHA:520 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Farber Lipogranulomatosis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis |
OMIM:228000 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circula... |
OMIM:617388 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, A... |
ORPHA:829 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... |
OMIM:301081 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Nausea and vomiting, Inflammatory abnorm... |
ORPHA:33577 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Nausea and vomiting, Lym... |
ORPHA:79477 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... |
ORPHA:90003 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Atopic dermatitis, Abnormality of the gastrointestinal tract, Hypereosinophilia, We... |
ORPHA:2902 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Skin rash, Abdominal pain, Leukocytosis, Diarrhea,... |
OMIM:617099 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Jaundice, Fee... |
OMIM:619573 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Neonatal cholestatic liver dise... |
OMIM:214900 |
Storage Pool Platelet Disease |
|
Myelodysplasia, Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... |
ORPHA:309031 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Otitis media, Splenomegaly, Tracheoesophageal fistula, Ec... |
ORPHA:379 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... |
ORPHA:75234 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Lymphoma, Hemolytic anemia |
ORPHA:98375 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Brucellosis |
|
Hepatomegaly, Vomiting, Myocarditis, Thrombocytopenia, Epididymitis, Knee osteoarthritis, Pneumon... |
ORPHA:1304 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ... |
OMIM:619767 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Abnormal granulocyte morphology, Abnormality of... |
ORPHA:1451 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Vomiting, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased... |
ORPHA:2688 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hepatomegaly |
OMIM:615924 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Ly... |
OMIM:260920 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... |
OMIM:232220 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting |
OMIM:616809 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm, Ovarian neoplasm, Macroglossia, Neoplasm of the respiratory system, Neoplasm of the bre... |
ORPHA:2221 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Gastric varix, Bronchiectasis |
OMIM:613490 |
Systemic Capillary Leak Syndrome |
|
Multiple myeloma, Pancreatitis, Abdominal pain, Leukocytosis, Diarrhea, Myocarditis, Weight loss,... |
ORPHA:188 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Abdominal pain, Splenomegaly, Leukocytosis, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean... |
OMIM:300908 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding diffi... |
OMIM:613489 |
Macrophage Activation Syndrome |
|
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rhe... |
ORPHA:158061 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy |
ORPHA:56425 |
Pneumocystosis |
|
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Interstitial pneumoniti... |
ORPHA:723 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Int... |
OMIM:601847 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Selective Igm Deficiency |
|
Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cancer, O... |
ORPHA:331235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233710 |
Cystic Echinococcosis |
|
Abdominal symptom, Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly,... |
ORPHA:400 |
Gaucher Disease Type 2 |
|
Dysphagia, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea,... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Hepatic fibrosis, Portal hyp... |
OMIM:616278 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Bone marrow hypocellulari... |
OMIM:227645 |
Castleman Disease |
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Decreased mean corpuscular volume, Abdominal distention, Abdominal pain, Anemia, Follicular hyper... |
ORPHA:160 |
Neuroendocrine Tumor Of Stomach |
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