Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... |
OMIM:615559 |
Immunodeficiency, Common Variable, 5 |
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Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Macrophage Activation Syndrome |
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Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... |
ORPHA:158061 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatic failure, Infectious encephalitis, Reduced natural killer cell activity, Decreased circula... |
OMIM:308240 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, Elevated hepatic ... |
ORPHA:158057 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:603909 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... |
OMIM:247800 |
Immunodeficiency 64 With Lymphoproliferation |
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Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Dec... |
OMIM:618534 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... |
OMIM:300635 |
Immunodeficiency 27A |
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Anemia, Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Rheumatoid factor positive,... |
OMIM:209950 |
Autoimmune Lymphoproliferative Syndrome |
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Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:601859 |
Autoimmune Hepatitis |
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Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... |
ORPHA:2137 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 6 |
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Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
Immunodeficiency 105 |
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Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 35 |
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Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Colitis, Erythr... |
ORPHA:540 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... |
OMIM:618048 |
Autoimmune Lymphoproliferative Syndrome |
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Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Hepatocellular carcinoma,... |
ORPHA:3261 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
Congenital Disorder Of Glycosylation, Type Iir |
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Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... |
OMIM:301045 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Jaundice, Elevat... |
OMIM:620010 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Flu... |
OMIM:619220 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Autoimmunity, Recurrent ot... |
OMIM:618495 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... |
ORPHA:169160 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea... |
OMIM:616828 |
Lysinuric Protein Intolerance |
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Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomer... |
ORPHA:470 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Immunodeficiency 34 |
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Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Anemia, Chronic diarrhea, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs... |
OMIM:304790 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, R... |
OMIM:608106 |
Immunodeficiency, Common Variable, 3 |
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Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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T lymphocytopenia, Diarrhea, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ... |
ORPHA:572 |
Cystic Echinococcosis |
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Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Abdominal symptom, In... |
ORPHA:400 |
Lymphoproliferative Syndrome 1 |
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Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... |
OMIM:613011 |
Mannose-Binding Lectin Deficiency |
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Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
Lysosomal Acid Lipase Deficiency |
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Diarrhea, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hyperchole... |
OMIM:278000 |
Immunodeficiency 97 With Autoinflammation |
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Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... |
OMIM:619802 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... |
ORPHA:37042 |
Complement Component 7 Deficiency |
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Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Hyperbilirubinemia, Shunt, Primary |
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Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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T lymphocytopenia, Recurrent aspiration pneumonia, Diarrhea, Elevated hepatic transaminase, Hepat... |
ORPHA:79124 |
Hepatoportal Sclerosis |
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Hepatocellular carcinoma, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Nodular ... |
ORPHA:64743 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
Immunodeficiency 61 |
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Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
OMIM:300310 |
C3 Glomerulopathy |
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Mesangial hypercellularity, Decreased circulating complement C3 concentration, Glomerular extraca... |
ORPHA:329918 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
X-Linked Agammaglobulinemia |
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Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Hypocalcemia, Autoimmunit... |
ORPHA:47 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... |
OMIM:308230 |
Immunodeficiency 95 |
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Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... |
OMIM:619773 |
Immunodeficiency 91 And Hyperinflammation |
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Hemolytic-uremic syndrome, Increased circulating lactate dehydrogenase concentration, Maculopapul... |
OMIM:619644 |
Malaria |
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Anemia, Nausea and vomiting, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reac... |
ORPHA:673 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Hepa... |
OMIM:615285 |
Mu-Heavy Chain Disease |
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Anemia, Increased circulating antibody level, Abnormal B cell count, Osteoporosis, Lymphadenopath... |
ORPHA:100024 |
Immunoerythromyeloid Hypoplasia |
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Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level |
OMIM:314000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Elevated hepatic... |
ORPHA:562639 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h... |
ORPHA:247598 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... |
ORPHA:567544 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... |
ORPHA:169079 |
Babesiosis |
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Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Nausea and vomiting, Jaundice... |
ORPHA:108 |
Leishmaniasis |
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Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... |
ORPHA:507 |
Agammaglobulinemia 3, Autosomal Recessive |
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Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
Griscelli Syndrome |
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Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat... |
ORPHA:381 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:613502 |
Immunodeficiency 30 |
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Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 102 |
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Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Decreased proportio... |
OMIM:301082 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity... |
OMIM:614470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Chron... |
ORPHA:169154 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
Immunodeficiency 25 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Sickle Cell Anemia |
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Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Hemolytic anemia, Uncon... |
ORPHA:232 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Reduced antigen-specific T cell proliferation, Elevated hepatic transaminase, Abnormal B cell cou... |
ORPHA:331206 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Preeclampsia |
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Acute kidney injury, Abnormality of the kidney, Abdominal pain, Autoimmunity, Elevated hepatic tr... |
ORPHA:275555 |
Complement Factor D Deficiency |
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Recurrent bacterial infections |
OMIM:613912 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra... |
ORPHA:79303 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Abdo... |
ORPHA:567983 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
Complement Component 8 Deficiency, Type Ii |
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Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Red Cell Phospholipid Defect With Hemolysis |
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Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Hepato... |
OMIM:617872 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Biliary cirrhosis, Hepatocellular carcinoma, Antinuclea... |
ORPHA:186 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... |
OMIM:300853 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Liver Failure, Infantile, Transient |
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3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Diarrhea, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid der... |
OMIM:269840 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Antinuclear antibody positivity, Thyroiditis, Keratoconjunctivitis sicca, Punc... |
OMIM:617388 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
Q Fever |
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Elevated hepatic transaminase, Cryoglobulinemia, Lupus anticoagulant, Hepatosplenomegaly, Pericar... |
ORPHA:781 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Ac... |
ORPHA:882 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Hypercholester... |
ORPHA:75234 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneu... |
ORPHA:276 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri... |
OMIM:251880 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Neutropenia, Hemolytic ane... |
ORPHA:398124 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Vomiting, Hemolytic anemia, Red urine, Reticulocytosis, I... |
OMIM:618892 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Lympho... |
OMIM:615934 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:612692 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... |
ORPHA:319552 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Thymoma |
|
Leukemia, Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor... |
ORPHA:99867 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:613673 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Abnormality of the urinary system, Vomiting, Diarr... |
ORPHA:91547 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Sple... |
OMIM:269920 |
Galactosemia |
|
Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Renal ins... |
ORPHA:352 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Eczema, Co... |
OMIM:607271 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Hypertriglyceridemia, Skin rash, Jaundice, Lymphadenopathy, Increased cir... |
OMIM:603552 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Diarrhea, Unconjugated hyperbilirubinemia, El... |
OMIM:618278 |
Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Osteolysis, Decreased liver function, Thrombocytopenia, Abdominal p... |
ORPHA:98850 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Jaundice, Elevated hepatic transaminase, Acholic stools, In... |
OMIM:607765 |
Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Elevated hepatic trans... |
ORPHA:171 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated... |
ORPHA:829 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Cytopl... |
ORPHA:449400 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Chronic diarrhea, Granuloma, Chilblains, Membranoproliferative glomerulonephrit... |
OMIM:619858 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Inflammatory abnormality of the sk... |
ORPHA:277 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Circu... |
OMIM:607665 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Enterocolitis, Reduced natural killer cell activity, S... |
OMIM:616050 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Simple Cryoglobulinemia |
|
Pericarditis, Viral hepatitis, Microscopic hematuria, Chronic lymphatic leukemia, Arthritis, Abdo... |
ORPHA:91139 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer ce... |
OMIM:603553 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Myocarditis, Infectious encephalitis, Hepatic failure, Abnormal macrophage mo... |
ORPHA:292 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Diarrhea, Skin rash, Abdominal pain, Elevated hepatic transamina... |
ORPHA:83313 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Decreased acid sphingomyelinase activity, Increased LDL cholester... |
OMIM:607616 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Elevated circulating alkaline pho... |
OMIM:214900 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating total IgM, Decreased circulating antibody level, Ac... |
ORPHA:859 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Diarrhea, Neu... |
OMIM:607594 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... |
OMIM:152700 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Anemia, Stage 5 chronic kidney disease, Minimal change glomeruloneph... |
ORPHA:1830 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... |
OMIM:193670 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Vomiting, Diarrhea, Poor appetite, Increased circulating antibody level, Hepatitis, A... |
ORPHA:319218 |
Wilson Disease |
|
Aminoaciduria, Decreased circulating ceruloplasmin concentration, Hyperphosphaturia, Hepatocellul... |
OMIM:277900 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal di... |
OMIM:618528 |
Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Hyperbilirubinemia, ... |
ORPHA:3111 |
Wolcott-Rallison Syndrome |
|
Abnormality of the liver, Renal insufficiency, Exocrine pancreatic insufficiency, Lymphocytosis, ... |
ORPHA:1667 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Galactosemia I |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga... |
OMIM:230400 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Increased ... |
ORPHA:3202 |
Cog4-Cdg |
|
Cirrhosis, Intermittent diarrhea, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated cir... |
ORPHA:263501 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Alpha-Heavy Chain Disease |
|
Anemia, Abdominal pain, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Hypocalcemi... |
ORPHA:100025 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ... |
ORPHA:480520 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Abnormality of complement system, Systemic lupus erythematosus |
OMIM:613783 |
Castleman Disease |
|
Anemia, Renal insufficiency, Increased circulating interleukin 6 concentration, Nausea and vomiti... |
ORPHA:160 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... |
OMIM:614420 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Decr... |
OMIM:616636 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Vomiting, Megaloblastic anemia, Decreased circulating antibody level, Hyperhomo... |
OMIM:617780 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decr... |
ORPHA:231222 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Hypoplasia of the thymus, Enterocolitis, Decreased circulating antibody level, I... |
OMIM:243150 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Diarrhea, Hepatitis, Skin rash, Arthr... |
ORPHA:33110 |
Immunodeficiency 23 |
|
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Increased circulating IgG level, Eczema, Lym... |
OMIM:615816 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Diarrhea, Bowel irritability, Gastritis, Colitis, Recurrent sk... |
OMIM:619381 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... |
OMIM:231100 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Abnormal lymphocyte proliferation, Decreased proportion of CD4-positiv... |
OMIM:619573 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Schnitzler Syndrome |
|
Anemia, Arthritis, Skin rash, Increased bone mineral density, Lymphadenopathy, Increased circulat... |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Elevated circulating alanine aminotransferase concentration, Elevated ... |
OMIM:614727 |
Yellow Fever |
|
Diarrhea, Elevated circulating creatine kinase concentration, Hematemesis, Thrombocytopenia, Elev... |
ORPHA:99829 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Diarrhea, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Intrahepa... |
OMIM:235555 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating ep... |
ORPHA:227990 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Decreased circulating complement C3 concentration, Autoimmunity, Hematuria, Rheumatoid fa... |
ORPHA:90060 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Vomiting, Increased circulating interleukin 6 concentration, Diarrhea, Abnormality of serum cytok... |
ORPHA:542323 |
Sepsis In Premature Infants |
|
Anemia, Vomiting, Enterocolitis, Increased circulating interleukin 6 concentration, Diarrhea, Fun... |
ORPHA:90051 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Decreased circulating complement C3 concentration, Neph... |
OMIM:608709 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Elevated hepa... |
OMIM:617591 |
Ceroid storage disease |
|
Hepatic failure, Abnormality of the spleen |
OMIM:214200 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Hepatic ... |
OMIM:222470 |
Idiopathic Pulmonary Hemosiderosis |
|
Autoimmune antibody positivity, Hepatosplenomegaly, Rheumatoid factor positive, Glomerulonephriti... |
ORPHA:99931 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Diarrhea, Eczema, Hepatosplenomegaly, Generalized osteoporosis... |
ORPHA:391487 |
Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:905 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentration, Myosit... |
ORPHA:36234 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
Mevalonic Aciduria |
|
Anemia, Vomiting, Elevated urine mevalonic acid level, Diarrhea, Skin rash, Morbilliform rash, In... |
OMIM:610377 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Osteopetrosis, Increased bone mineral density, Hyperbilirubinemia, Hypoc... |
OMIM:259720 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating ep... |
ORPHA:227982 |
Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrome, Functional... |
ORPHA:29073 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficul... |
ORPHA:2924 |
Legionnaires Disease |
|
Endocarditis, Renal insufficiency, Diarrhea, Nausea and vomiting, Hepatitis, Jaundice, Pancreatit... |
ORPHA:549 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
Shigellosis |
|
Hemolytic-uremic syndrome, Bloody diarrhea, Abnormal blood ion concentration, Hyponatremia, Throm... |
ORPHA:810 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Skin rash, Hyperbilirubinemia, Jaundice, Elevated hepatic transamina... |
ORPHA:69665 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Has... |
OMIM:618549 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Infectio... |
OMIM:267700 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Abdominal pain, Fava bea... |
OMIM:300908 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Cirrhosis, Proximal tubulopathy, Chronic diarrhea, Elevated hepatic tra... |
OMIM:614576 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... |
ORPHA:3392 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Vomiting, Increased urine alpha-ketoglutarate concentration, Decreased plasma ca... |
ORPHA:2394 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hyperbil... |
ORPHA:79302 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr... |
OMIM:615207 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Hepatitis, Hypersplenism, Feeding d... |
OMIM:613385 |
Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:53035 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Diarrhea, Acute kidney injury, Microangiopathic hemolytic anemia, Abdominal ... |
ORPHA:54057 |
Wolman Disease |
|
Hepatic failure, Anemia, Nausea and vomiting, Abdominal distention, Malnutrition, Bone-marrow foa... |
ORPHA:75233 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Positive direct antiglobulin test, Hemolytic anemia, H... |
ORPHA:71275 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Elevated hepatic transaminase, Proteinuria |
OMIM:189800 |
Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased circulating anti... |
OMIM:170100 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema, Recurrent otitis media, Chronic muc... |
OMIM:608971 |
Thymic Aplasia |
|
Hypocalcemic tetany, T lymphocytopenia, Chronic oral candidiasis, Decreased lymphocyte proliferat... |
ORPHA:83471 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, I... |
OMIM:611881 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ... |
ORPHA:2134 |
Graft Versus Host Disease |
|
Diarrhea, Fasciitis, Inflammatory abnormality of the eye, Elevated hepatic transaminase, Hepatosp... |
ORPHA:39812 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Membranous nephropathy, Acute kidney injury, Normocytic anemia, Abdomina... |
ORPHA:49041 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Anemia, Nephrotic syndrome, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:607426 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... |
OMIM:209920 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... |
OMIM:312863 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Malar rash, Myelitis, Decreased circulating complement C3 concentration, Anti-aquapor... |
OMIM:301080 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hemolytic anemia, Eczema, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Postinfectious Vasculitis |
|
Elevated haptoglobin level, Cytoplasmic antineutrophil antibody positivity, Cryoglobulinemia, Vir... |
ORPHA:48435 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chronic diarrhea, Thro... |
OMIM:614700 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... |
OMIM:618394 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Chronic d... |
OMIM:616740 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia |
OMIM:234350 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... |
OMIM:617744 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Diarrhea, Autoimmunity, Protra... |
OMIM:615758 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytope... |
OMIM:608898 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Renal insufficiency, Jaundice, Abdominal pain, Elevated hepatic transa... |
ORPHA:890 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell... |
OMIM:619281 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Infectious encephalitis, Diarrhea, Vomiting, Hepatitis, Acu... |
ORPHA:454836 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Gastrostomy tube feeding in infancy, Anti-thyroid peroxidase antibody positivity, Anti... |
ORPHA:228426 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Increased bon... |
ORPHA:77259 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Bloody diarrhea, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... |
OMIM:619398 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Renal tubular atrophy, Diarrhea, Hepatosplenomegaly, Intestinal o... |
ORPHA:85450 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Anemia, Vomiting, Diarrhea, Ascites, Abdominal distention, Cholestasis,... |
OMIM:608104 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Chronic dia... |
OMIM:300972 |
Immunodeficiency 69 |
|
Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin con... |
OMIM:618963 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Decreased circulating complement C3 concentration, Hematuria, Lupus anticoagu... |
ORPHA:231111 |
Hepatocellular Carcinoma |
|
Diarrhea, Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobilia,... |
ORPHA:88673 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Anemia, Biliary cirrhosis, Hepatic cysts, Vomiting, Liver abscess, Increased ci... |
ORPHA:284 |
Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Portal inflammation, Hepatic steatosis, ... |
ORPHA:101330 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Eczema, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Classic Galactosemia |
|
Hepatic failure, Vomiting, Diarrhea, Jaundice, Elevated hepatic transaminase, Abnormal erythrocyt... |
ORPHA:79239 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Oligoarthritis, Chronic lymphatic leukemia, Incr... |
ORPHA:3243 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly |
OMIM:610329 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Systemic lupus erythematosus, Autoimmuni... |
OMIM:613652 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine, Decreased proportion of cl... |
OMIM:615767 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... |
OMIM:615438 |
Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminase, Glomerulonephritis, ... |
ORPHA:340 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Elevated hepatic transaminase, Punctate keratitis, Hepatomegaly,... |
OMIM:557000 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Anemia, Intraalveolar phospholipid accumulation, Hepatic fibrosis, Elevated circul... |
OMIM:615486 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Aminoaciduria, Renal tubular atrophy, Renal tubular acidosis, Jaund... |
OMIM:208085 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Interstitial pneumonitis, Lymphopenia, Bone marr... |
OMIM:127550 |
Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Myosit... |
ORPHA:289390 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly |
ORPHA:466794 |
Immunodeficiency 92 |
|
Osteomyelitis, Chronic diarrhea, B lymphocytopenia, Abnormal B cell proliferation, Lymphocytosis,... |
OMIM:619652 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Nausea and vomiting, Abdominal pain, Pancreatitis, Anorexia, Hyperam... |
ORPHA:79312 |
Aicardi-Goutieres Syndrome 7 |
|
Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hemateme... |
OMIM:615846 |
Acquired Purpura Fulminans |
|
Skin rash, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hepatic failure |
ORPHA:49566 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Decr... |
ORPHA:367 |
Immunoglobulin A Deficiency 2 |
|
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... |
OMIM:609529 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Gout, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Elevate... |
OMIM:617056 |
Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Hepatitis, Abnormality of the kidney, Pneumonia, Sinusitis, Eosino... |
ORPHA:1163 |
Chilblain Lupus |
|
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... |
ORPHA:90280 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Diarrhea, Elevated hepatic transaminase, Hepatosplenomega... |
ORPHA:275761 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Myocarditis, Renal insufficiency, Nephrotic syndrome, Hepatitis, Ly... |
ORPHA:139402 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia, 3-Methylglutaconic aciduria |
ORPHA:67048 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Reduced carnitine O-palmitoyltransferase level, Elevated circulating acylcarnitine concentration,... |
ORPHA:228305 |
Felty Syndrome |
|
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... |
ORPHA:47612 |
Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Hemoperitoneum, Elevated circulating creatine kinase concentration, Parotitis, Hepatome... |
ORPHA:99827 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Thrombocytopenia, Sideroblastic anemia, Patent ductus arteriosus |
OMIM:617021 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Abdominal distention, Elevated circulating alkaline phosphatase concen... |
OMIM:174050 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Feeding difficulties, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody lev... |
OMIM:618969 |
Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cirrhosis, Eczema, Decreased liver function, Cholel... |
ORPHA:79278 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Inc... |
ORPHA:210136 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Nephronophthisis, Splenomegaly, Chr... |
OMIM:615630 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Increase... |
OMIM:614034 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:99901 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:616974 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Increased circulating lactate dehydrogenase con... |
ORPHA:26791 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... |
OMIM:301068 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Au... |
OMIM:616576 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo... |
OMIM:618999 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... |
OMIM:619707 |
Isolated Agammaglobulinemia |
|
Anemia, Diarrhea, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Abnorm... |
ORPHA:229717 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Vomiting, Diarrhea, Hepat... |
ORPHA:71212 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis,... |
OMIM:201475 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Diarrhea, Jaundice, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intrahepatic ch... |
OMIM:211600 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Nephrotic range proteinuria, Scleritis, Cytoplasmic antineutrophil ... |
ORPHA:93126 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... |
ORPHA:84081 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Patent ductus arteriosus, Nephrotic syndrome, Enlarged... |
OMIM:617303 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Reynolds Syndrome |
|
Biliary cirrhosis, Anti-centromere antibody positivity, Calcinosis, Erythema nodosum, Hyperbiliru... |
OMIM:613471 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Intermittent diarrhea, T lymphocytop... |
OMIM:616433 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Transaldolase Deficiency |
|
Anemia, Cirrhosis, Abnormality of the kidney, Hepatosplenomegaly, Increased serum bile acid conce... |
ORPHA:101028 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Recurrent bacterial infections, Recurrent upper respirato... |
OMIM:608184 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Ant... |
ORPHA:93552 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
Rift Valley Fever |
|
Anemia, Infectious encephalitis, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, H... |
ORPHA:319251 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... |
ORPHA:2298 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Intrahepatic cholestasis, E... |
OMIM:601847 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Arthritis, Elevated transferrin saturation, Abdominal... |
ORPHA:465508 |
Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperbilirubinemia, Polycythemia, Cholestasis |
OMIM:606812 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hy... |
ORPHA:699 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin... |
OMIM:616299 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Carcinoid Syndrome |
|
Episodic abdominal pain, Nausea and vomiting, Hepatic necrosis, Elevated hepatic transaminase, Pr... |
ORPHA:100093 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circul... |
ORPHA:90362 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Absent specific antibody response, Eosinophilia, Hepatomegaly, Chronic diarrhea, Pneumo... |
OMIM:102700 |
Primary Myelofibrosis |
|
Anemia, Increased circulating lactate dehydrogenase concentration, Pancytopenia, Hepatosplenomega... |
ORPHA:824 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Renal steatosis |
OMIM:261650 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Ascites, Portal hypertension, Tubulointerstitial ... |
OMIM:232500 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Elevated circulating alpha-fetoprot... |
ORPHA:33402 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Diarrhea, Hypersplenism, Reduced he... |
ORPHA:231226 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Diarrhea, Prostatitis, Recurrent urin... |
OMIM:307200 |
Gaucher Disease |
|
Anemia, Cirrhosis, Osteomyelitis, Dysphagia, Increased circulating antibody level, Hepatitis, Inc... |
ORPHA:355 |
Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, ... |
ORPHA:91138 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Renal insufficiency, Nausea and vomiting, Hyperammonemia, Hepatomegaly, Thrombocytopenia,... |
ORPHA:289916 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Epiphyseal stippling, Renal cyst, Hepatomegaly, Decreased liver ... |
OMIM:614870 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... |
OMIM:613179 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ... |
OMIM:616414 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Cirrhosis, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Diarrhea, V... |
OMIM:602579 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Erythroderma, T lympho... |
OMIM:619510 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Diarrhea, Unconjugated hyperbilirubinemia, Reticulocytosis, Hyponatremia, Thromb... |
ORPHA:90038 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:100026 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure, Hyperammonemia, Low plasma citrulline |
OMIM:618567 |
Galactosemia Iii |
|
Aminoaciduria, Vomiting, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Gala... |
OMIM:230350 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated circulating cre... |
ORPHA:228308 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, Chronic diarrhea, B lymphocytopenia, Generalized lymphadenopathy, Lymph... |
OMIM:602450 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Elevated circulatin... |
ORPHA:157 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Increased serum pyruvate, Hepatomegaly, Decreased liver function, ... |
OMIM:246900 |
Aicardi-Goutieres Syndrome 5 |
|
Feeding difficulties in infancy, Thrombocytopenia, Chilblains, Increased circulating interferon-g... |
OMIM:612952 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... |
ORPHA:2688 |
Farber Disease |
|
Hepatic fibrosis, Anemia, Hepatic failure, Arthritis, Elevated hepatic transaminase, Abnormal cir... |
ORPHA:333 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Hepatomegaly |
ORPHA:60 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Jaundice... |
OMIM:617049 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Abdominal distention, Panc... |
OMIM:235255 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transa... |
ORPHA:42 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Diarrhea, Elevated hepatic transaminase, Reticulocytosis, Elevated circulating c... |
ORPHA:99826 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Skin rash, Lymphopenia, Lupus anticoagulant, Colitis, Thrombocytopenia, Antinuc... |
OMIM:616744 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
Intermediate Osteopetrosis |
|
Anemia, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Hepatosplenomegaly, Elevated cir... |
ORPHA:210110 |
Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Diarrhea, Nausea and vomiting, Hepatitis, Normo... |
ORPHA:199299 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Diarrhea, Elevated hepatic transaminase, Portal inflammation, Eczema, Elevated cir... |
OMIM:619991 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hepatic failure, Poor suck, Hyperbilirubinemia, Elevated hepatic transa... |
OMIM:614886 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hepatic failure, Hyperspleni... |
ORPHA:77293 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Diarrhea, Decreased circulating antibody level, Aplasia/Hypoplasia of the thy... |
ORPHA:33355 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... |
ORPHA:70578 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Anemia, Hepatic fibrosis, Cirrhosis, Poor suck, Pancytopenia, Hepatospl... |
OMIM:606003 |
Propionic Acidemia |
|
Anemia, Vomiting, Hyperglycinemia, Poor appetite, Feeding difficulties in infancy, Eczema, Pancyt... |
OMIM:606054 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Anemia, Renal insufficiency, Renal hypoplasia/aplasia, Thrombocytopenia... |
ORPHA:2123 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Renal insufficiency, Nausea and vomiting, Hyperammonemia, Macrocytic anemia, ... |
ORPHA:27 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ... |
ORPHA:713 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Abdominal pai... |
OMIM:210250 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Galactose Mutarotase Deficiency |
|
Hypergalactosemia, Abnormal circulating enzyme concentration or activity, Cholestasis, Hepatomega... |
ORPHA:570422 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Tick-Borne Encephalitis |
|
Leukopenia, Myelitis, Vomiting, Abnormality of serum cytokine level, Elevated hepatic transaminas... |
ORPHA:297 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... |
ORPHA:90036 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
Congenital Toxoplasmosis |
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Anemia, Diarrhea, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly... |
ORPHA:858 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased CD4:CD8 ratio, Chronic diarrhea, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia... |
OMIM:606367 |
Rhabdoid Tumor |
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Anemia, Poor appetite, Nausea and vomiting, Neoplasm of the liver, Abdominal pain, Hematuria, Ren... |
ORPHA:69077 |
Complement Component 4A Deficiency |
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Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co... |
OMIM:614380 |
Congenital Disorder Of Glycosylation, Type Iih |
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Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Decreased circulating complement factor B concentration, Hemolytic-uremic syndrome, Decreased cir... |
OMIM:235400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Abnormal urine output, Acute kidney injury, Stage 5 chr... |
ORPHA:567548 |
Patent Ductus Venosus |
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Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated hepatic transaminase, Eczema, Recurrent sinusitis, Hepatosplenomegaly, Lupus anticoagula... |
OMIM:615688 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Chédiak-Higashi Syndrome |
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Elevated hepatic transaminase, Hepatosplenomegaly, Hyponatremia, Decreased liver function, Thromb... |
ORPHA:167 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glut... |
OMIM:614480 |
Idiopathic Congenital Hypothyroidism |
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Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Autoimmune ant... |
ORPHA:95717 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Anti-thyroid peroxidase antibody positivity, Autoimmune antibody positivity, Abnormal circulating... |
ORPHA:95715 |
Immunodeficiency 86 |
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Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Hemolytic-uremic syndrome, Anemia, Decreased circulating complement C3 concentration, Anuria, Acu... |
OMIM:612925 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... |
OMIM:614376 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... |
OMIM:617093 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatic failure, Pulmonary lymphangiectasia, Abdominal distention, Hepatosplenomegaly, Pancreatic... |
ORPHA:1655 |
Aicardi-Goutieres Syndrome 4 |
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Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Feeding difficulties, Hepatomega... |
OMIM:610333 |
Selective Igm Deficiency |
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Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Omenn Syndrome |
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Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... |
OMIM:603554 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Diarrhe... |
OMIM:614069 |
Overlap Myositis |
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Leukopenia, Abnormal circulating lipid concentration, Rheumatoid arthritis, Arthritis, Abnormalit... |
ORPHA:206572 |
Myasthenia Gravis |
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Anti-muscle-specific tyrosine kinase antibody, Hemolytic anemia, Rheumatoid arthritis, Hepatitis,... |
ORPHA:589 |
Forsythe-Wakeling Syndrome |
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Thrombocytopenia, Osteoporosis, Nephrotic syndrome |
OMIM:613606 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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