Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

unc-93 homolog B1, TLR signaling regulator

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Unc93b1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Unc93b1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Nausea and vomiting, Neutrophilia, Elevated circulating C-reactive pr... ORPHA:1930

The table below shows human diseases predicted to be associated to Unc93b1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Macrophage Activation Syndrome
Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Increased circulating ferrit... ORPHA:158061
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Abnormal renal physiology, Splenomegaly, Increased cir... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... OMIM:300635
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... ORPHA:2137
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Anorexia, Pneumonia, Lymphadenopath... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Hepatitis, Recurrent otitis media, Systemic lupus erythematosus, S... ORPHA:444463
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... ORPHA:540
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis,... OMIM:301045
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmunity, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... OMIM:618495
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Decrease... ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... OMIM:304790
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... ORPHA:572
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, He... ORPHA:400
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Ne... ORPHA:37042
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid l... OMIM:278000
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... ORPHA:329918
Hepatoportal Sclerosis
Anticardiolipin IgM antibody positivity, Splenomegaly, Hypersplenism, Abnormality of the hepatic ... ORPHA:64743
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Diarrhea, Enlarged tonsil... OMIM:308230
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ... ORPHA:47
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:606843
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Nausea and vomiting, Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated ... ORPHA:673
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Interm... OMIM:619644
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Anem... ORPHA:100024
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Elevated circulat... ORPHA:562639
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis, Hematuria OMIM:314000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... OMIM:251880
Hepatomegaly, Anorexia, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Rhinitis, Ane... ORPHA:507
Hepatomegaly, Nausea and vomiting, Anorexia, Leukopenia, Splenomegaly, Hepatic failure, Thrombocy... ORPHA:108
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... OMIM:614470
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hepatosplenomegaly, Hype... ORPHA:247598
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Abnormal circulating lipid concentration, Dec... ORPHA:381
Autoimmunity, Helicobacter pylori infection, Abnormality of the kidney, Chronic kidney disease, E... ORPHA:275555
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... ORPHA:169154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Decreased proportion o... ORPHA:331206
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ab... ORPHA:567983
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Autoimmunity, Abdominal distention, Hepatitis, Conjuga... ORPHA:186
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Antinuclear antibody positivity, Rheumatoid factor... ORPHA:449395
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... ORPHA:1304
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenome... ORPHA:781
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Spl... OMIM:259720
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... ORPHA:443811
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Autoimmunity,... ORPHA:277
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Neonatal hyperbilirubinemia, Increased urine... OMIM:618892
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
Cholesteryl Ester Storage Disease
Hepatomegaly, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceri... ORPHA:75234
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... ORPHA:99867
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Hepatomegaly, Hypergalactosemia, Vomiting, Ascites, Feeding difficulties, Reduced bone mineral de... ORPHA:352
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... ORPHA:398124
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Circulating immune compl... OMIM:607665
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... OMIM:603552
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Os... OMIM:269920
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Relapsing Fever
Leukocytosis, Leukopenia, Vomiting, Elevated hepatic transaminase, Abnormality of the urinary sys... ORPHA:91547
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Simple Cryoglobulinemia
Rheumatoid factor positive, Mesangial hypercellularity, Gastrointestinal hemorrhage, Microscopic ... ORPHA:91139
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... ORPHA:848
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Abdomi... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Hypocholestero... OMIM:607765
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Feeding difficulties, Splenomegaly, Increase... OMIM:615846
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Fetal ascites, Neutropenia, Infectious encephalitis, Leukopenia, Hepat... ORPHA:292
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Enterocolitis, Reduced natural killer cell activity, Anemia, Spl... OMIM:616050
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Lymphadenopathy, Hepatosplenomegaly, Hypersplenism, Gastrointestinal hemor... ORPHA:98850
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Boutonneuse Fever
Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Nausea, Increased circulating IgG lev... ORPHA:83313
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... OMIM:152700
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Infectious encephalitis, Leukopenia, Elevated hepati... OMIM:603553
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Autoimmunity, Focal segmental glomerulosclerosis, Neut... ORPHA:1830
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:859
Ebola Hemorrhagic Fever
Dysphagia, Leukopenia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level,... ORPHA:319218
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Increased total bilirubin, Cholestasis,... OMIM:618528
Primary Sclerosing Cholangitis
Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatospl... ORPHA:171
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia,... ORPHA:100025
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... ORPHA:480520
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... OMIM:601495
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis OMIM:613783
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Ascites, Iron deficiency anemia, Chronic kidney disease,... ORPHA:1667
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminem... OMIM:617156
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... ORPHA:37748
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227990
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/... ORPHA:3111
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Castleman Disease
Ureteral obstruction, Nausea and vomiting, Increased circulating interleukin 6, Mediastinal lymph... ORPHA:160
Yellow Fever
Acute pancreatitis, Pancreatic hyperplasia, Diarrhea, Abdominal pain, Jaundice, Leukocytosis, Vom... ORPHA:99829
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Diffuse Alveolar Hemorrhage
Leukocytosis, Autoimmunity, Decreased serum complement C4, Elevated circulating creatinine concen... ORPHA:90060
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Hereditary Spherocytosis
Hepatomegaly, Abdominal distention, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Gou... ORPHA:822
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Vomiting, Hepatic steatosis, Hepatic failure, Pancytopenia OMIM:617872
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hemolytic anemia, Jaundice, Autoimmune hem... OMIM:619573
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased urine output,... ORPHA:542323
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... OMIM:613489
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Jaundice, Anemia of inadequate pr... ORPHA:231222
Isolated Polycystic Liver Disease
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Increased total bilirubin, P... ORPHA:2924
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:905
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Galactosemia I
Hepatomegaly, Hypergalactosemia, Vomiting, Increased level of galactitol in urine, Increased leve... OMIM:230400
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Increased circulating IgA level, Lymphadenop... ORPHA:29073
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... OMIM:617591
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Splenomegaly, Elevated circulati... OMIM:235555
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Increas... ORPHA:36234
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227982
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Vomiting, Ascites, Abdominal distention, Anemia, Patent ductus arteriosus, Decrease... OMIM:608104
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... ORPHA:263501
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Anemia, Glomerular sclero... OMIM:607426
Myocarditis, Tenesmus, Hemolytic-uremic syndrome, Uveitis, Abdominal pain, Abnormal blood ion con... ORPHA:810
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Pr... ORPHA:54057
Wilson Disease
Hepatomegaly, High nonceruloplasmin-bound serum copper, Dysphagia, Renal tubular dysfunction, Hyp... OMIM:277900
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Functiona... ORPHA:90051
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... ORPHA:288
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Vo... OMIM:610377
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Abnormal inflammatory response, Neutropenia, Abnormal cytokine si... ORPHA:158048
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decre... OMIM:300908
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Antineutrophil antibody positivity, Cardiomegaly, Rheumatoi... ORPHA:99931
Legionnaires Disease
Myocarditis, Hyponatremia, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, ... ORPHA:549
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Prolidase Deficiency
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... OMIM:170100
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Impaired T cell function, Elevated circulating... OMIM:614576
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disea... OMIM:619381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Protoporphyria, Erythropoietic, 1
Eczema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure, Hemolytic anemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Infectious ... OMIM:267700
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... ORPHA:2134
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Positive direct anti... ORPHA:71275
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Feeding difficulties in infancy, Autoimmunity, Decreased circulating IgA level, Hep... OMIM:613385
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria OMIM:189800
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Abdominal pain... ORPHA:48435
Wolman Disease
Nausea and vomiting, Hepatomegaly, Ascites, Abdominal distention, Bone-marrow foam cells, Anemia,... ORPHA:75233
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... ORPHA:3392
Caroli Disease
Cholangitis, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulatin... ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Eczematoid dermatitis, Decreased pr... ORPHA:83471
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... OMIM:616829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Abnormal serum interfero... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Elevated hepatic ... OMIM:614727
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, Diarrhea, T lymphoc... OMIM:608971
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocy... OMIM:608898
Graft Versus Host Disease
Stomatitis, Lymphadenopathy, Fasciitis, Hepatosplenomegaly, Elevated circulating alkaline phospha... ORPHA:39812
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Vomiting, Feeding difficulties, Increased urine alpha-ketogluta... ORPHA:2394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... ORPHA:228426
Glycogen Storage Disease Vii
Gout, Cholelithiasis, Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, R... OMIM:232800
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... OMIM:618116
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... ORPHA:890
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Gaucher Disease Type 1
Hepatomegaly, Anorexia, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, Anemia, Spleno... ORPHA:77259
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ... ORPHA:231111
Classic Galactosemia
Hepatomegaly, Vomiting, Ascites, Feeding difficulties, Osteoporosis, Reduced bone mineral density... ORPHA:79239
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate, Tubulointers... ORPHA:85450
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Thrombocytopenia, Micropenis, Feeding difficulties OMIM:615597
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Mucoi... OMIM:615767
Alveolar Echinococcosis
Cholangitis, Biliary cirrhosis, Bone cyst, Pancreatic cysts, Abnormality of mesentery morphology,... ORPHA:284
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 46
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... OMIM:616740
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Autoimmunity, Vomiting, Megaloblastic anemia, Decrease... OMIM:617780
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Immunodeficiency 47
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... OMIM:300972
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... OMIM:613652
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Vomiting, Anemia, Hyperammonemia, Cirrhosis, Hepa... OMIM:615486
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Hypop... OMIM:603554
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Porphyria Cutanea Tarda
Porphyrinuria, Increased circulating ferritin concentration, Decreased hepcidin level, Increased ... ORPHA:101330
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, P... ORPHA:3243
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Hepatocellular Carcinoma
Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Diarrhea, Portal hyperte... ORPHA:88673
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating surfactant protein level, Incr... ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Avian Influenza
Infectious encephalitis, Leukopenia, Vomiting, Elevated circulating creatine kinase concentration... ORPHA:454836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Nausea and vomiting, Anorexia, Neutropenia, Feeding difficulties, Anemia, Pancreati... ORPHA:79312
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Intrahepatic Cholestasis Of Pregnancy
Ascites, Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration... ORPHA:69665
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Crimean-Congo Hemorrhagic Fever
Myocarditis, Lymphadenopathy, Melena, Splenomegaly, Parotitis, Acute pancreatitis, Pancytopenia, ... ORPHA:99827
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Hypoalbum... OMIM:602579
Felty Syndrome
Sinusitis, Hepatomegaly, Autoimmunity, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... ORPHA:47612
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Increased circulating IgE level,... OMIM:212050
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infectio... OMIM:609529
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
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Abdominal distention, Bone-marrow foam cells, Fatal liver failu... ORPHA:275761
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b OMIM:614379
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Skin rash, Hepatic failure ORPHA:49566
Autosomal Erythropoietic Protoporphyria
Eczema, Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circulat... ORPHA:79278
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Sinusitis, Neutropenia, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Abdominal distention, Renal cyst, Increased total bilirubin, Polycystic liver disease, E... OMIM:174050
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Elevated circulating C-reactiv... OMIM:614034
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lym... ORPHA:229717
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Nodular regenerative hyperplasia of liver, Increased circulating fer... ORPHA:210136
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... ORPHA:84081
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha... ORPHA:139402
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Increased h... ORPHA:2088
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Ascites, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, ... ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... OMIM:211600
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Lymphadenopathy, Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Neph... ORPHA:93552
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, T lymphocytopenia, Arthritis, Panhypogammaglobulinemia, Otitis medi... OMIM:601457
Insulin-Resistance Syndrome Type B
Autoimmunity, Enlarged ovaries, Hypotriglyceridemia, Enlarged polycystic ovaries, Skin rash, Hypo... ORPHA:2298
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Anemia, Cirrhosis, Hepatosplenomegaly, Increased se... ORPHA:101028
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... OMIM:616005
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, D... OMIM:615122
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Myoglobinuria, Vomiting, Decreased 3-hydroxyacyl-CoA dehydrogena... ORPHA:71212
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Episodic vomiting, Elevated circulating creatine kinase co... OMIM:201475
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Hyperammonemia, Elevated circulating acylcarnitine concentration, Elevated... ORPHA:99901
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Myoglobinuria, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Decreased serum compleme... OMIM:608709
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, E... OMIM:601847
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Dysphagia, Vomiting, Lacticaciduria, Elevated circulating cr... ORPHA:26791
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Oste... ORPHA:465508
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Sideroblastic anemia, Patent ductus arteriosus OMIM:617021
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Cholestasis, Hepatic failure, Aminoaciduria OMIM:606812
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Anti-thyroid peroxidase antibody positivity, Feeding difficulties, Abnormal circulating thyroglob... ORPHA:95715
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... OMIM:301068
Pearson Syndrome
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Pancytopenia, Bone marrow hypocellul... ORPHA:699
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Epiphyseal stippling, Renal cyst, Decreased liver ... OMIM:614870
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 30
Feeding difficulties, Hyperalaninemia, Decreased liver function, Left ventricular hypertrophy, El... OMIM:616974
Gaucher Disease
Hepatomegaly, Feeding difficulties in infancy, Dysphagia, Osteoarthritis, Hematuria, Hepatitis, A... ORPHA:355
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Diarrhea, Abdominal pain, Leukocytosis, Hyponatremia, Schistocyt... ORPHA:90038
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaire... OMIM:613179
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... OMIM:276700
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Ascites, Decreased circulating IgA level, ... ORPHA:90362
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Nausea and vomiting, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, ... ORPHA:289916
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency 85 And Autoimmunity
Eczema, Tube feeding, Erythroderma, Vomiting, Decreased circulating IgA level, Oligoarthritis, De... OMIM:619510
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Carcinoid Syndrome
Nausea and vomiting, Protracted diarrhea, Hepatic necrosis, Abnormal B-type natriuretic peptide l... ORPHA:100093
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis, Elevated circulating C-reac... OMIM:616414
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphadenopathy, Odynophagia, Hyperammonemia, Uveitis, Mac... ORPHA:99826
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... ORPHA:231226
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Cholelithias... OMIM:614886
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Glycogen Storage Disease Iv
Ascites, Tubulointerstitial fibrosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hype... OMIM:232500
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Lupus anticoagulant, Thrombocytopenia, Hemolyt... OMIM:616744
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Gastrointestinal infarctio... ORPHA:91138
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Hyperammonemia, Decreased liver function, Poor suck, Elevated circulating sebaci... OMIM:615160
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Hydronephrosis, Ascites, Abdominal dis... OMIM:235255
Rift Valley Fever
Anorexia, Infectious encephalitis, Hematuria, Hepatitis, Anemia, Increased circulating IgG level,... ORPHA:319251
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin, Skin rash, Abnormal urinar... ORPHA:90036
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Feeding difficulties, Hypoplasia of the thymus, Reduced antigen-specific T cell prolifera... OMIM:617241
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Anemia, Patent ductus arteriosus, Renal hypoplasia/aplasia,... ORPHA:2123
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Decreased serum zinc, Feeding difficulties, Esophagitis, Duplic... ORPHA:541423
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Hyperbilirubinemia, Reticulocytosis, Hemolytic... ORPHA:713
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol ... ORPHA:77293
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Nausea and vomiting, Leukopenia, Anemia, Pancreatitis, Hyperammo... ORPHA:27
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology OMIM:219400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Decreased serum complement fac... OMIM:235400
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Abnormal liver sonography, Neoplasm of the liver, Cirrhos... ORPHA:90003
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Aplasi... ORPHA:33355
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Rhabdoid Tumor
Hypercalcemia, Nausea and vomiting, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Po... ORPHA:69077
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hepatic failure, Hyperammonemia OMIM:618567
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality o... OMIM:222470
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal ph... OMIM:274150
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Patent ductus arteriosus, Splenom... OMIM:606003
Farber Disease
Hepatic fibrosis, Ascites, Lymphadenopathy, Feeding difficulties, Osteoporosis, Anemia, Arthritis... ORPHA:333
Gamma-Heavy Chain Disease
Hepatomegaly, Dysphagia, Autoimmunity, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, S... ORPHA:100026
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Anorexia, Neutropenia, Vomiting, Decreased circulating IgG level, Hypoalbuminemi... OMIM:600351
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... OMIM:606367
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia, Osteolysis ORPHA:158014
Tick-Borne Encephalitis
Leukocytosis, Dysphagia, Anorexia, Abnormality of serum cytokine level, Leukopenia, Vomiting, Nau... ORPHA:297
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Feeding difficulties in infancy, Elevated circulating creatine kinase conc... OMIM:619355
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Nausea and vomiting, Anorexia,... ORPHA:199299
Complement Component 4A Deficiency
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... OMIM:614380
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Leukopenia, Vomiting, Methylm... OMIM:251000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... OMIM:615688
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... ORPHA:79087
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis, Nephrotic syndrome OMIM:613606
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Overlap Myositis
Autoimmunity, Dysphagia, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal... ORPHA:206572
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, H... ORPHA:228308
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Vomiting, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties, Splenomegaly, Hepatosplenomega... OMIM:610333
Myasthenia Gravis
Dysphagia, Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus e... ORPHA:589
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Reye syn... OMIM:256810
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Decreased liver function, Cholestasis, Abnormal enzyme/coenzyme ... ORPHA:570422
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Elevated hepatic transaminase, Thro... ORPHA:858
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Decreased liver function, Hepatic steatosis, Elevat... OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... ORPHA:157
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Vomiting, Elevated circulating creatine kinase concentration, Cardiomegaly, Dicarbo... ORPHA:42
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Cheilitis, Megaloblastic anemia, Decreased circulating antibody le... ORPHA:90045
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Periodontitis, Increased ... ORPHA:167
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Vomiting, N... OMIM:231680
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatic necrosis, Elevated alpha-fetoprotein, Abdominal... ORPHA:33402
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Hydronephrosis, Ascites, Abdominal dis... ORPHA:1655
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... OMIM:617049
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Propionic Acidemia
Hepatomegaly, Feeding difficulties in infancy, Propionyl-CoA carboxylase deficiency, Neutropenia,... OMIM:606054
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... ORPHA:86843
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creati... OMIM:614376
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... OMIM:618852
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Intest... ORPHA:131
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Citrullinemia Type I
Vomiting, Feeding difficulties, Hyperammonemia, Hepatic failure, Elevated plasma citrulline, Gast... ORPHA:247525
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Feeding difficulties, Cholestasis OMIM:609060
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Anorexia, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosis, Ch... OMIM:613404
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Hyperbilirubinemia OMIM:609734
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Elevated hepatic transaminase, Transient h... ORPHA:156
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... ORPHA:14
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hepatic failure, Elevated hepatic transa... OMIM:611126
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Feeding difficulties, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Chronic diarrhea, Recurrent pneumonia,... OMIM:619164
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182