Gene: Unc93b1 MGI:1859307

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

unc-93 homolog B1, TLR signaling regulator

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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.

Human diseases associated with Unc93b1 (2 diseases)
Human diseases predicted to be associated with Unc93b1 (1288 diseases)

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

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

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

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a...	OMIM:615559
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Macrophage Activation Syndrome	Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan...	ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1	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	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level	OMIM:242870
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo...	OMIM:617006
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, Elevated hepatic ...	ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal...	OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti...	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Dec...	OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In...	OMIM:300635
Immunodeficiency 27A	Anemia, Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Rheumatoid factor positive,...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal...	OMIM:601859
Autoimmune Hepatitis	Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ...	ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 2	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	Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot...	ORPHA:444463
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or...	OMIM:613496
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif...	OMIM:613494
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,...	OMIM:611521
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci...	OMIM:615897
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron...	OMIM:618982
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Colitis, Erythr...	ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 2	Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Hepatocellular carcinoma,...	ORPHA:3261
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo...	OMIM:619375
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti...	OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Jaundice, Elevat...	OMIM:620010
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Flu...	OMIM:619220
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul...	OMIM:619632
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Autoimmunity, Recurrent ot...	OMIM:618495
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Increased alpha-globulin, Histiocytosis	OMIM:235900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen...	ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea...	OMIM:616828
Lysinuric Protein Intolerance	Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomer...	ORPHA:470
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr...	OMIM:613500
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Chronic diarrhea, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs...	OMIM:304790
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, R...	OMIM:608106
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini...	OMIM:613493
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Diarrhea, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ...	ORPHA:572
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Abdominal symptom, In...	ORPHA:400
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,...	OMIM:613011
Mannose-Binding Lectin Deficiency	Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ...	OMIM:614372
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hyperchole...	OMIM:278000
Immunodeficiency 97 With Autoinflammation	Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg...	OMIM:619802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1...	ORPHA:37042
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ...	OMIM:613101
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina...	OMIM:237800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Diarrhea, Elevated hepatic transaminase, Hepat...	ORPHA:79124
Hepatoportal Sclerosis	Hepatocellular carcinoma, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Nodular ...	ORPHA:64743
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections...	OMIM:606843
Immunodeficiency 61	Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev...	OMIM:300310
C3 Glomerulopathy	Mesangial hypercellularity, Decreased circulating complement C3 concentration, Glomerular extraca...	ORPHA:329918
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi...	OMIM:301078
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau...	OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs...	OMIM:618944
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Hypocalcemia, Autoimmunit...	ORPHA:47
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt...	OMIM:308230
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I...	OMIM:619773
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Increased circulating lactate dehydrogenase concentration, Maculopapul...	OMIM:619644
Malaria	Anemia, Nausea and vomiting, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reac...	ORPHA:673
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Enlarged kidney, Hepa...	OMIM:615285
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Osteoporosis, Lymphadenopath...	ORPHA:100024
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level	OMIM:314000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Elevated hepatic...	ORPHA:562639
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h...	ORPHA:247598
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ...	ORPHA:567544
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,...	ORPHA:169079
Babesiosis	Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Nausea and vomiting, Jaundice...	ORPHA:108
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve...	ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive	Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ...	OMIM:613501
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat...	ORPHA:381
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial...	OMIM:613502
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 102	Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Decreased proportio...	OMIM:301082
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity...	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Chron...	ORPHA:169154
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis...	OMIM:617514
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Sickle Cell Anemia	Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Hemolytic anemia, Uncon...	ORPHA:232
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva...	ORPHA:766
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	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	Acute kidney injury, Abnormality of the kidney, Abdominal pain, Autoimmunity, Elevated hepatic tr...	ORPHA:275555
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra...	ORPHA:79303
Parenteral Nutrition-Associated Cholestasis	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	Meningitis, Recurrent Neisserial infections	OMIM:613789
Red Cell Phospholipid Defect With Hemolysis	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	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	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	3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr...	OMIM:613070
Immunodeficiency 48	Panhypogammaglobulinemia, Diarrhea, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid der...	OMIM:269840
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Antinuclear antibody positivity, Thyroiditis, Keratoconjunctivitis sicca, Punc...	OMIM:617388
Hepatic Venoocclusive Disease With Immunodeficiency	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	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	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c...	OMIM:161900
Congenital Toxoplasmosis	Anemia, Diarrhea, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly...	ORPHA:858
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi...	OMIM:274150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Chronic diarrhea, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia...	OMIM:606367
Rhabdoid Tumor	Anemia, Poor appetite, Nausea and vomiting, Neoplasm of the liver, Abdominal pain, Hematuria, Ren...	ORPHA:69077
Complement Component 4A Deficiency	Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co...	OMIM:614380
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta...	OMIM:611182
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Hemolytic-uremic syndrome, Decreased cir...	OMIM:235400
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Abnormal urine output, Acute kidney injury, Stage 5 chr...	ORPHA:567548
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function	OMIM:601466
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Eczema, Recurrent sinusitis, Hepatosplenomegaly, Lupus anticoagula...	OMIM:615688
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti...	OMIM:300291
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hepatosplenomegaly, Hyponatremia, Decreased liver function, Thromb...	ORPHA:167
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glut...	OMIM:614480
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Autoimmune ant...	ORPHA:95717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Anti-thyroid peroxidase antibody positivity, Autoimmune antibody positivity, Abnormal circulating...	ORPHA:95715
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anemia, Decreased circulating complement C3 concentration, Anuria, Acu...	OMIM:612925
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom...	OMIM:614376
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f...	OMIM:617093
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pulmonary lymphangiectasia, Abdominal distention, Hepatosplenomegaly, Pancreatic...	ORPHA:1655
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Feeding difficulties, Hepatomega...	OMIM:610333
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Omenn Syndrome	Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Lymphade...	OMIM:603554
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Diarrhe...	OMIM:614069
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Rheumatoid arthritis, Arthritis, Abnormalit...	ORPHA:206572
Myasthenia Gravis	Anti-muscle-specific tyrosine kinase antibody, Hemolytic anemia, Rheumatoid arthritis, Hepatitis,...	ORPHA:589
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis, Nephrotic syndrome	OMIM:613606
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

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