Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... |
OMIM:615285 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... |
OMIM:619164 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... |
OMIM:616005 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia... |
ORPHA:98849 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary ... |
OMIM:608971 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... |
OMIM:614470 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Mantle Cell Lymphoma |
|
Anorexia, Lymphadenopathy, Weight loss, Splenomegaly, B-cell lymphoma, Abnormality of the gastroi... |
ORPHA:52416 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... |
OMIM:300635 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... |
OMIM:153600 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... |
OMIM:615767 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... |
OMIM:618969 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp... |
OMIM:618108 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... |
OMIM:616871 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Immunodeficiency 19 |
|
Diarrhea, Recurrent otitis media, Lymphopenia, Failure to thrive |
OMIM:615617 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Familial Thrombocytosis |
|
Thrombocytosis, Myelodysplasia, Weight loss, Chronic myelogenous leukemia, Splenomegaly, Acute my... |
ORPHA:71493 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... |
OMIM:615897 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Stomatitis, Lymphadenopathy, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, ... |
ORPHA:911 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Absent tonsils, Lack of T cel... |
ORPHA:277 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Failure to thrive, Recurrent otitis... |
OMIM:618495 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anorexia, Hepatomegaly, Cachexia, Lymphadenopathy, Hemangioma, Anem... |
ORPHA:824 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... |
ORPHA:158057 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Mastocytosis |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Acute leukemia, Chronic leukemia, Splenomegaly, Sarc... |
ORPHA:98292 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Reduced natural killer cell ... |
OMIM:616050 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglob... |
OMIM:269840 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Failure to thrive, T lymphocytopenia, Failure to thrive secondary t... |
OMIM:601457 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Leukemia, Lymphadenopathy, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hyperspl... |
ORPHA:98850 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, B-cell lymphoma, Splenomegaly |
OMIM:619437 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, B... |
OMIM:300853 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... |
ORPHA:3243 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Thrombocytopenia, Colitis |
OMIM:616744 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... |
ORPHA:231401 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopath... |
OMIM:209950 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... |
ORPHA:100024 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Sarcoma, M... |
ORPHA:66661 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... |
ORPHA:86841 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Leukocytosis, Hepatomegaly, Acute leukemia, Chronic otitis media, Lymphadeno... |
ORPHA:3226 |
Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating antibody ... |
ORPHA:33355 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... |
OMIM:619041 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Skin r... |
OMIM:618963 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... |
ORPHA:98827 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Lymphadenopathy, Abscess, Recurrent tonsillitis, Splenomegaly, Granuloma, ... |
OMIM:618935 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anem... |
ORPHA:90033 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Lymphoma, Splenomegaly, Breast carcinoma, B... |
ORPHA:86893 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Failure to ... |
OMIM:617718 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... |
OMIM:618534 |
Glioma Susceptibility 9 |
|
Leukemia, Glioma, Astrocytoma |
OMIM:616568 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... |
ORPHA:906 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... |
ORPHA:444463 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer |
OMIM:619096 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... |
ORPHA:70482 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... |
OMIM:618987 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Anal atresi... |
OMIM:605724 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Lymphadenopathy, Failure to thrive, Decreased circulating IgA level, Decreased... |
OMIM:607271 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... |
OMIM:614172 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Tube feeding, Erythroderma, Villous atrophy, Vomiting, Failure to thrive in infancy, Decr... |
OMIM:619510 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Neutropenia, Biliary t... |
OMIM:209920 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... |
OMIM:615190 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Lymphadenopathy, Failure to thrive, Increased circulating IgA level, I... |
ORPHA:169154 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Eosinophilia, Ne... |
ORPHA:486 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Colitis, Failure to thrive, ... |
OMIM:608809 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Monoclonal elevation of circulating I... |
ORPHA:91139 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Lymphadenopathy, Decreased eosinophil count, Recurrent tonsillitis, Perio... |
ORPHA:2686 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... |
ORPHA:3261 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Immunodeficiency 17 |
|
Eczema, Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Decreased propo... |
OMIM:615607 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia |
OMIM:614743 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia... |
OMIM:618999 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Cutaneo... |
OMIM:600802 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Burkitt lymphoma, Fulminant ... |
OMIM:308240 |
Amed Syndrome, Digenic |
|
Myelodysplasia, Leukopenia, Failure to thrive, Bone marrow hypocellularity, Anemia, Acute myeloid... |
OMIM:619151 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anorexia, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic l... |
ORPHA:514 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... |
ORPHA:217390 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Feeding difficulties, Weight loss, Splenomegaly, Jaundice |
ORPHA:79238 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Weight loss, ... |
ORPHA:26790 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Weight loss, Malabso... |
ORPHA:42642 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe... |
OMIM:618986 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:231154 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Lymphoma,... |
OMIM:619126 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... |
OMIM:619220 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Neoplasm, Lymphoma, Splenomegaly |
ORPHA:98293 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Celiac dis... |
OMIM:619375 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Neoplasm of the central... |
ORPHA:83469 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... |
ORPHA:99867 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Decreased proport... |
OMIM:615518 |
Leishmaniasis |
|
Hepatomegaly, Anorexia, Leukopenia, Rhinitis, Lymphadenopathy, Weight loss, Anemia, Splenomegaly,... |
ORPHA:507 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Lymphadenopathy, Decreased circula... |
OMIM:616100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hereditary Spherocytosis |
|
Hepatomegaly, Abdominal distention, Gout, Anemia, Cholelithiasis, Splenomegaly, Maculopapular exa... |
ORPHA:822 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Mediastinal lymphadenopathy, Myelodysplasia, Anemia, Bone marrow hypocellularity, Myeloid leukemi... |
OMIM:614742 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... |
OMIM:259710 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... |
ORPHA:37042 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Lymphadenopathy, Reduced natura... |
ORPHA:540 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure... |
OMIM:601495 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Ascites, Weight loss, An... |
ORPHA:2070 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Hepatocellular carcinoma, Erythroid hyperplasia, Elevated hepatic iro... |
ORPHA:231222 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Failure to thrive in infancy, Small for gestational age, Feeding difficulties, Hypoplasia... |
OMIM:617241 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Thrombocyt... |
OMIM:603552 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myelodysplasia, Myositis, Increased circulating ant... |
ORPHA:48104 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Lung abscess, Protracted diarrhea, Gast... |
ORPHA:67 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia |
OMIM:610247 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Lymphadenopathy, Abnormality of ... |
ORPHA:79456 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Cachexia, Esophageal varix, Ascites, Abdominal distention, Ane... |
ORPHA:75233 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... |
OMIM:266600 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Lymphoma, Splenomegaly, Increased... |
ORPHA:37748 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Cholesteatoma, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disea... |
OMIM:619381 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph... |
ORPHA:54251 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:572 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Villous atrophy, Failure to thr... |
OMIM:606367 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... |
ORPHA:276 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Abdominal pain, Splenomegaly |
OMIM:118830 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... |
OMIM:259720 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly |
OMIM:615593 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, Decreased... |
OMIM:615122 |
Burkitt Lymphoma |
|
Nausea and vomiting, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of th... |
ORPHA:543 |
Lymphoproliferative Syndrome 3 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... |
OMIM:618261 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg... |
ORPHA:2198 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Abdominal cramps, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Mac... |
ORPHA:98848 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Hyp... |
OMIM:603554 |
Immunodeficiency 92 |
|
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... |
OMIM:619652 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Stomatitis, Lymphadenopathy, Lymphoproliferative diso... |
OMIM:613011 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... |
ORPHA:47612 |
Shigellosis |
|
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Leukocytosis, Bloody mucoid diarr... |
ORPHA:810 |
Pgm3-Cdg |
|
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... |
ORPHA:443811 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Lymphadenopathy, Weight loss, Bone marrow hypocellularity, Neoplasm, Lymp... |
ORPHA:391 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of th... |
ORPHA:229717 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Myelodysplasia, Pancytopenia |
OMIM:614038 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:240500 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic a... |
ORPHA:398063 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma |
ORPHA:64741 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Rhabdoid Tumor |
|
Nausea and vomiting, Neoplasm of the central nervous system, Lymphadenopathy, Weight loss, Anemia... |
ORPHA:69077 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypochromic microcytic anemia, Hepatocellular carcinoma, Hepatic fi... |
ORPHA:231226 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... |
ORPHA:77297 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Failure to thrive,... |
ORPHA:79303 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Abnormality of the peritoneum, Lymphom... |
ORPHA:545 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Neutropenia, Chronic otitis media, Hepatitis, Conjunctivitis, Recurrent cutaneous absc... |
ORPHA:47 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Cardiomegaly |
ORPHA:88643 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Protracted diarrhea, Failure to thrive, Decre... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Erythroderma, Decreased circulating total IgA, Pneumonia, Protracted diarrhea, Failure ... |
ORPHA:169160 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... |
ORPHA:636 |
Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, H... |
ORPHA:231214 |
Ataxia-Telangiectasia |
|
Sinusitis, Hodgkin lymphoma, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasi... |
OMIM:208900 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Abdominal ... |
OMIM:618852 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Failure to thrive, Feeding difficulties, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymp... |
ORPHA:2584 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... |
OMIM:601399 |
Galactosemia Iii |
|
Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly, Jaundice |
OMIM:230350 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Diarrhe... |
OMIM:308230 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... |
ORPHA:443167 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Failure to thrive, Malabsorption, Neoplasm, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... |
ORPHA:2137 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... |
OMIM:614493 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Recurrent aspiration pneumonia, ... |
ORPHA:79124 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Obesity |
OMIM:605309 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Bloody diarrhea, Thrombocytosis, Defective T cell proliferation, Failure to thrive,... |
OMIM:618213 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Vomiting, Small for gestational age, Functional abnormal... |
ORPHA:90051 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Anorexia, Weight loss, Neoplasm of the larynx, Chronic noninfectious lym... |
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 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrh... |
ORPHA:79301 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Essential Thrombocythemia |
|
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... |
ORPHA:141152 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Multiple lineage mye... |
ORPHA:86839 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, T lymphocytopenia, Failure to thrive, Decreas... |
OMIM:242860 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Failure to thrive, C... |
OMIM:242700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Failure to thrive, Decreased circulating I... |
OMIM:102700 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Hemolytic anemia, Eczema, Inflammation of the large intestine, Absent microvilli on th... |
OMIM:600903 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Decreased specific antibody response to vaccination, Helico... |
OMIM:618131 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... |
OMIM:263300 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... |
ORPHA:324964 |
Primary Intestinal Lymphangiectasia |
|
Ascites, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastroin... |
ORPHA:90362 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Malnu... |
ORPHA:811 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... |
ORPHA:131 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Lig4 Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Malabsorption, Lymphoma, Pancytopenia |
ORPHA:99812 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Weight... |
ORPHA:33276 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Fa... |
OMIM:614576 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hepatomegaly |
OMIM:615924 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Alpha-Thalassemia |
|
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... |
ORPHA:846 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... |
ORPHA:1333 |
Mismatch Repair Cancer Syndrome 1 |
|
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Ménétrier Disease |
|
Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec... |
ORPHA:2494 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia |
OMIM:191390 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... |
OMIM:619313 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Abdominal distention, Sple... |
ORPHA:3260 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, ... |
OMIM:614602 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin |
OMIM:618309 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Idiopathic Achalasia |
|
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux |
ORPHA:930 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Jaundice, Steatorrhea, ... |
OMIM:612714 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed to... |
ORPHA:2930 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Neutropenia, Failure to thrive, Feeding difficulties... |
ORPHA:79312 |
Wiskott-Aldrich Syndrome |
|
Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:301000 |
Bloom Syndrome |
|
Neoplasm of the skin, Acute lymphoblastic leukemia, Decreased circulating antibody level, Gastros... |
ORPHA:125 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Anorexia, Normocytic anemia, Leukemia, Lymphadenopathy, Monoclonal immunoglobulin M... |
ORPHA:33226 |
Syndromic Diarrhea |
|
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Hepatic fibrosi... |
ORPHA:84064 |
Chronic Beryllium Disease |
|
Weight loss, Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion... |
ORPHA:133 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Vomiting, Oval macrocytosis, Abnormal hemogl... |
ORPHA:35858 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Feeding difficulties,... |
OMIM:230900 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Abnormal... |
ORPHA:39041 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Acute leukemia, Weight loss, Splenomegaly, Gastrointestinal hemorrh... |
ORPHA:729 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss, Anorexia, Abnormality of the peritoneum |
ORPHA:2023 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Abnormal intestine morphology, I... |
ORPHA:391487 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Decreased pr... |
ORPHA:83471 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... |
ORPHA:905 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Sézary Syndrome |
|
Hepatomegaly, Neoplasm of the skin, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level,... |
ORPHA:3162 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Vomiting, Peritonitis, Microangio... |
ORPHA:90038 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... |
OMIM:613662 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Diarrhea, Abdominal pain,... |
OMIM:121300 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Testicular seminoma, Abnormal stomach morphology |
ORPHA:281090 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Failure to thrive, Splenomegaly, Red... |
OMIM:609981 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia... |
OMIM:613179 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Chronic o... |
ORPHA:1572 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Small for gestational age, Myelodysplasia, Failure t... |
OMIM:260400 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Combined Saposin Deficiency |
|
Feeding difficulties, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Myositis, Panniculitis, Cardiomegaly, Arthritis, Hepatosplenomegaly, ... |
ORPHA:51 |
Immunodeficiency 22 |
|
Diarrhea, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to thrive |
OMIM:615758 |
Turcot Syndrome With Polyposis |
|
Thyroid carcinoma, Astrocytoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Failure to thrive, Panniculitis, Anemia, Arth... |
OMIM:617591 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Nausea, Abdominal distention, Increased fecal coproporphyrin 3... |
ORPHA:100924 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Lymphadenopathy, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... |
ORPHA:158029 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Bloom Syndrome |
|
Small for gestational age, Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased c... |
OMIM:210900 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... |
ORPHA:298 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Eczema, Macrocytic anemia, Vomiting, Megaloblastic anemia, Decreased circulating ... |
OMIM:617780 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... |
OMIM:604173 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Malabsorption |
OMIM:152800 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Caroli Disease |
|
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... |
ORPHA:53035 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Increased circulating antibo... |
OMIM:615846 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Babesiosis |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Leukopenia, Splenomegaly, Hepatic failure, Thrombocy... |
ORPHA:108 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steato... |
OMIM:278000 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis |
OMIM:226990 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... |
OMIM:606069 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... |
ORPHA:73263 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Ascites, Failure to thrive, Vacuolated lymphocytes, Cardiomegaly, Sple... |
OMIM:269920 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly |
OMIM:617068 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Tracheoesophageal fistu... |
ORPHA:93941 |
Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypo... |
ORPHA:381 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Failure to thrive, Arthritis, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
Igg4-Related Aortitis |
|
Weight loss, Increased circulating IgG4 level, Increased inflammatory response, Intestinal obstru... |
ORPHA:449400 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Failure to thrive, Increased circulating IgA level, Inc... |
OMIM:617388 |
Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... |
ORPHA:829 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Anorexia, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Weight loss, Anemia... |
ORPHA:520 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemo... |
ORPHA:79477 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis |
OMIM:259730 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Squamous cel... |
OMIM:618849 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Weight loss, Abnormal liver sonography, Neoplasm of the l... |
ORPHA:90003 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Weight loss, Increased circulating IgE level, Hypereosinophilia,... |
ORPHA:2902 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipe... |
OMIM:214900 |
Chronic Granulomatous Disease |
|
Sinusitis, Pyloric stenosis, Eczema, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Sp... |
ORPHA:379 |
Autoimmune Hemolytic Anemia |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Abdominal pain, Abnormal leukocyte morphology |
ORPHA:98375 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Weight loss, Panniculitis, Splenomegaly, Inflammatory abnormal... |
ORPHA:33577 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Iron deficiency anemia, Abdominal distention, Weight loss, S... |
ORPHA:309031 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... |
ORPHA:75234 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... |
OMIM:617099 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... |
ORPHA:158061 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Cinca Syndrome |
|
Nausea and vomiting, Leukocytosis, Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Ane... |
ORPHA:1451 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... |
ORPHA:2688 |
Immunodeficiency 87 And Autoimmunity |
|
Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Jaundice, Autoimmune hemolyti... |
OMIM:619573 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgD level, Vomiting, Lymphadenitis, Lymphadenopathy, Chronic ... |
OMIM:260920 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... |
ORPHA:64743 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... |
ORPHA:1304 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hepatomegaly, Lymphadenopathy, Splenomegaly, Diarrhea, Hemolytic anemia |
ORPHA:56425 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, A... |
ORPHA:188 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Lymph... |
ORPHA:2221 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Failure to thrive, Splenomegaly, Poor appetite, Diarrhea |
OMIM:201100 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Splenomegaly |
ORPHA:77260 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Failure to thrive, Feeding diffi... |
OMIM:613489 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Ascites, Lymphadenopathy, Failure to thr... |
OMIM:257200 |
Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Myeloproliferative disorder... |
OMIM:190685 |
Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Weight loss, Neoplasm, Increased circulating ... |
ORPHA:723 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic ... |
OMIM:601847 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:331235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomye... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomye... |
OMIM:233710 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob... |
ORPHA:400 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Gait ataxi... |
ORPHA:363400 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly |
OMIM:105200 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Weight loss, Anorexia, Neutrophilia |
ORPHA:1302 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Castleman Disease |
|
Nausea and vomiting, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Abdomi... |
ORPHA:160 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Cleft palate, Rh... |
OMIM:251260 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocy... |
OMIM:227645 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... |
OMIM:619463 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Neuroblastoma, Susceptibility To, 1 |
|