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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 (1336 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		Leukocytosis, Nausea and vomiting, Hyponatremia, Neutrophilia, Elevated circulating C-reactive pr...	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	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con...	ORPHA:158061
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd...	OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Rheumatoid factor positive, Enlarged mesenteric lymph node,...	OMIM:209950
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl...	OMIM:613494
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Eczematoid derm...	ORPHA:98813
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch...	ORPHA:470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Au...	OMIM:618495
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ...	ORPHA:79124
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope...	ORPHA:572
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Anticardiolipin IgM antibody positivity, Jaundice, Gastrointes...	ORPHA:64743
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra...	OMIM:618944
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,...	OMIM:301078
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Malabsorption, Hypoc...	ORPHA:47
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Tafro Syndrome	Increased circulating interleukin 6 concentration, Increased circulating lactate dehydrogenase co...	ORPHA:457077
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Recurr...	OMIM:619644
Malaria	Acute kidney injury, Hyperbilirubinemia, Nausea and vomiting, Elevated circulating C-reactive pro...	ORPHA:673
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta...	OMIM:620632
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumul...	OMIM:620565
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Increased urinary glycerol, Cholestasis, Hepa...	ORPHA:247598
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Hyper...	ORPHA:562639
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Nausea and vomiting, Thrombocytop...	ORPHA:108
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ...	OMIM:614470
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Dark urine, ...	ORPHA:79303
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepat...	ORPHA:331206
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ...	OMIM:300636
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Elevated circulating creatinine concentration, Pancytopenia, Hepatic s...	OMIM:617872
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal...	OMIM:226990
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T...	OMIM:240500
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle...	ORPHA:319552
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia...	ORPHA:1304
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat...	ORPHA:882
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Pu...	OMIM:617388
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Harderoporphyria	Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Increased ur...	OMIM:618892
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Sting-Associated Vasculopathy, Infantile-Onset	Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperp...	OMIM:615934
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating alkaline phosphat...	ORPHA:98850
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Neonatal chol...	OMIM:214900
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,...	OMIM:607594
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lym...	OMIM:269920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Acute hepatic failure, Splenomegaly, Abdominal ...	OMIM:620151
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre...	OMIM:612783
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:91547
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Reduced circulating complemen...	ORPHA:567544
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease...	OMIM:616873
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Diarrhea, Cervical lymphadenopathy, Leuk...	ORPHA:83313
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphaden...	ORPHA:100025
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Diarrhea, Vomiting...	OMIM:230400
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Abdominal distention, Ureteral ...	ORPHA:160
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt...	ORPHA:859
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci...	ORPHA:319218
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea...	ORPHA:402823
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Autoimmunity, Splenomegaly, Chronic sin...	ORPHA:397596
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ...	ORPHA:263501
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer...	OMIM:616050
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis...	ORPHA:292
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Abnormality of the kidney, Abdominal pain, Nephrotic syndrome, Gastro...	ORPHA:91139
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ...	ORPHA:90060
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Autosomal Agammaglobulinemia	Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Agammaglobulinemia,...	ORPHA:33110
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Complement Component C1S Deficiency	Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin...	OMIM:615816
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Adult-Onset Still Disease	Neutrophilia, Hepatomegaly, Abdominal pain, Elevated circulating C-reactive protein concentration...	ORPHA:829
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy...	OMIM:618278
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat...	OMIM:617780
Sepsis In Premature Infants	Oliguria, Increased circulating interleukin 6 concentration, Diarrhea, Decreased liver function, ...	ORPHA:90051
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hepatocellular necro...	OMIM:231100
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Autoimmunity, Leukocytosis, Autoimmune hemolytic anemia, Interface hep...	OMIM:243150
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera...	ORPHA:99829
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Rotor Syndrome	Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi...	ORPHA:3111
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hypermethioninemia, Increased circulating iron concentration, ...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Preeclampsia	Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran...	ORPHA:275555
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, F...	OMIM:619381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi...	ORPHA:99931
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Pancytopenia, Decreased circulating IgA level, Hypersplenism,...	OMIM:613385
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Conjunctivitis, Lymphopenia, Splenomegal...	OMIM:617591
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly	ORPHA:664
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu...	OMIM:613953
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Multiple Myeloma	Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine...	ORPHA:29073
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Abdomina...	ORPHA:75233
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,...	OMIM:259720
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Hematuria, Feeding difficulties in infancy, C...	ORPHA:355
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I...	ORPHA:289390
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Recurrent urinary ...	OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Feeding difficul...	ORPHA:2924
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Diarrhea, Fluctuating splenomegaly, Incr...	OMIM:610377
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco...	OMIM:615767
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly,...	ORPHA:549
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Abnormal circulating lactate de...	ORPHA:54057
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile ac...	OMIM:619256
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Elevated circul...	ORPHA:36234
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abnormal blood ion...	ORPHA:810
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Glycogen Storage Disease Iv	Hepatic failure, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly,...	OMIM:232500
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto...	ORPHA:228426
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid...	OMIM:608971
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Asc...	ORPHA:79239
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ...	ORPHA:2134
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Avian Influenza	Hypoalbuminemia, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concen...	ORPHA:454836
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Pancytopenia, Elevated circulating creatine ...	OMIM:607426
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerst...	ORPHA:340
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri...	OMIM:614034
Immunodeficiency 46	Conjunctivitis, Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased c...	OMIM:616740
Alveolar Echinococcosis	Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp...	ORPHA:284
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Porphyria Cutanea Tarda	Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci...	ORPHA:101330
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Nausea and vomiting,...	ORPHA:49041
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me...	OMIM:557000
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Diarrhea, Vomiting, Decreased liver function, Cholestasis, Elevated circulating ...	OMIM:608104
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intra...	OMIM:615486
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Recurrent infection of the gastrointestinal tract, ...	OMIM:609529
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Acute Lung Injury	Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s...	ORPHA:178320
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, ...	OMIM:619398
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Ascites, Decreased circulating Ig...	OMIM:615758
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci...	ORPHA:3243
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata...	OMIM:152800
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan...	OMIM:618963
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:208085
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulating alkaline p...	ORPHA:275761
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity	OMIM:607624
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Lupus anticoagulant, Antinuclear ...	ORPHA:231111
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Nausea and vomiting, Hepatomegaly, P...	ORPHA:79312
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepa...	OMIM:615846
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat...	ORPHA:60
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:367
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Diarrhea, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis ...	OMIM:211600
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ...	ORPHA:79278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo...	OMIM:307200
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Rena...	OMIM:174050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Splenomegaly, Elevated circulating alkaline phosphatase conce...	OMIM:601847
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Autoimmunity, Malabsorption, Otitis media, S...	ORPHA:229717
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia	ORPHA:67048
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:214950
Combined Oxidative Phosphorylation Deficiency 30	Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Decreased liver function, Elev...	OMIM:616974
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Hematuria, Erythema nodosum, Neut...	ORPHA:99827
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Aicardi-Goutieres Syndrome 5	Feeding difficulties in infancy, Increased circulating interferon-gamma concentration, Chilblains...	OMIM:612952
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran...	OMIM:618999
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Insulin-Resistance Syndrome Type B	Systemic lupus erythematosus, Increased circulating IgA level, Hypotriglyceridemia, Enlarged poly...	ORPHA:2298
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Osteolysis,...	ORPHA:47612
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Abdominal distention, ...	ORPHA:2088
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urin...	ORPHA:93552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Rift Valley Fever	Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious...	ORPHA:319251
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Focal segmental glomerulosclerosis, Nephritis, Recu...	OMIM:617303
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Diarrhea, Vomiting, Ren...	OMIM:602579
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary...	ORPHA:231226
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Constipation, Anti-thyroid peroxidase antibody ...	ORPHA:95715
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Epiphyseal stippling, Renal cyst, Feeding difficulties in infancy, Hepa...	OMIM:614870
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased ...	ORPHA:77293
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Renal steatosis, Hepatic steatosis	OMIM:261650
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Nausea and vomiting, Hepatomegaly...	ORPHA:289916
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re...	OMIM:616414
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch...	ORPHA:465508
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Skin rash, Anemia, Abnorma...	ORPHA:33355
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatomegaly, ...	OMIM:246900
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D...	ORPHA:26791
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran...	ORPHA:228308
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Mitochondrial Dna Depletion Syndrome 17	Hepatic failure, Low plasma citrulline, Hyperammonemia	OMIM:618567
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Decreased pla...	ORPHA:157
Galactosemia Iii	Aminoaciduria, Galactosuria, Vomiting, Splenomegaly, Decreased beta-galactosidase activity, Hepat...	OMIM:230350
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa...	OMIM:602450
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Diarrhea, Hepatitis, Autoimmunity, Nausea and vomiting, Macrocytic anemia, Hyp...	ORPHA:199299
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Dys...	ORPHA:90038
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Nausea and vomiting, Hepatome...	ORPHA:27
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Hypoca...	OMIM:235255
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased uri...	OMIM:613179
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Osteomalacia, Hyperbilirubinemia, Elevate...	OMIM:227810
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi...	OMIM:614886
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Eczematoid dermatitis, Panc...	OMIM:606054
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, C...	OMIM:616744
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Vomiting, Leukopenia, Leukocyt...	ORPHA:297
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Ascites, Cardiomegaly, Hepatom...	ORPHA:858
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Systemic lupus erythematosus, Increased total bilirubin, Autoimmunity, Au...	ORPHA:90036
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Diarrhea, Anuria, M...	OMIM:235400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Hyperamm...	OMIM:617049
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Fadd-Related Immunodeficiency	Hepatic fibrosis, Autoimmune antibody positivity, Decreased liver function	ORPHA:306550
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, A...	OMIM:620321
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Cholestasis, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly...	ORPHA:172
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Protein avoidance, ...	OMIM:238970
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, ...	ORPHA:1655
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr...	OMIM:256040
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Malabsorption, Intesti...	OMIM:226300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp...	OMIM:601457
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg...	OMIM:300291
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrull...	OMIM:261680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration...	OMIM:620366
Combined Oxidative Phosphorylation Deficiency 1	Cholestasis, Hepatomegaly, Fulminant hepatic failure, Feeding difficulties	OMIM:609060
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,...	OMIM:610199
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Osteopenia, Hypot...	ORPHA:14
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, H...	ORPHA:2123
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia...	ORPHA:824
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:611126
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Methylmalonic aciduria, Pancytopenia, Decrea...	OMIM:275350
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Rheumatoid arthritis, Abnormal circulati...	ORPHA:206572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy...	OMIM:614069
Hereditary Folate Malabsorption	Cheilitis, Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Pancytopenia, N...	ORPHA:90045
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocy...	ORPHA:69077
Omenn Syndrome	Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, ...	OMIM:603554
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,...	ORPHA:156
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Forsythe-Wakeling Syndrome	Osteoporosis, Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Elevated circulatin...	OMIM:608836
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Congenital Disorder Of Glycosylation, Type Iiaa	Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hepatic failure, ...	OMIM:620454
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly...	OMIM:606812
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Coarse metaphyseal trab...	ORPHA:1775
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Citrullinemia Type I	Hepatic failure, Vomiting, Gastroesophageal reflux, Hyperammonemia, Elevated plasma citrulline, F...	ORPHA:247525
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Hyperalaninemia	ORPHA:254881
Angiostrongyliasis	Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Nausea, Abdominal pain,...	ORPHA:74
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA...	ORPHA:1855
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity...	ORPHA:2902
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym...	ORPHA:3226
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Anorex...	ORPHA:536
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper...	OMIM:619111
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope...	OMIM:619164
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hyperglyc...	OMIM:251000
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Panniculitis, Skin rash, Chronic diarrhea, Increased proportion of CD4-po...	OMIM:617099
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Leigh Syndrome	Generalized aminoaciduria, Hepatic failure, Eczematoid dermatitis, Methylmalonic aciduria, Feedin...	ORPHA:506
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449432
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocy...	OMIM:608013
Mccune-Albright Syndrome	Renal phosphate wasting, Bone marrow hypocellularity, Gastroesophageal reflux, Aneurysmal bone cy...	ORPHA:562
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morpho...	OMIM:242900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Good Syndrome	Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurren...	ORPHA:169105
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Mem...	ORPHA:251004
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Fatal liver failure in infancy	ORPHA:254857
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati...	OMIM:615952
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Feeding difficulties	OMIM:615085
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Lymphopenia, ...	ORPHA:1572
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, A...	ORPHA:85435
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Abnormality of the kidney, Increased circulating IgG...	ORPHA:284227
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Decreased liv...	ORPHA:79319
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties...	ORPHA:3260
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Melena, Osteolysis, Ascites, Abnormality of the liver,...	ORPHA:464321
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Lack of bowel sounds, M...	ORPHA:100075
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Abno...	ORPHA:440713
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Constipation, Delayed proximal femo...	ORPHA:95717
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Pancytopenia, Splenomeg...	OMIM:259700
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin...	OMIM:608885
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nucleotidase activity...	OMIM:266120
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Elevated circulating propionylca...	OMIM:614857
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive ...	OMIM:301000
Folate Malabsorption, Hereditary	Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties...	OMIM:229050
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618835
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Infl...	ORPHA:398063
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Malabsorpti...	ORPHA:79301
Zika Virus Disease	Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm...	ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618839
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Abdominal pain, Hepa...	ORPHA:234
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Neonatal hyperbilirubinemia	ORPHA:3363
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Galactose Epimerase Deficiency	Aminoaciduria, Nausea and vomiting, Splenomegaly, Hepatomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Insulin Autoimmune Syndrome	Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth...	ORPHA:411593
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea...	OMIM:619525
Isovaleric Acidemia	Bone marrow hypocellularity, Hyperglycinuria, Vomiting, Pancytopenia, Leukopenia, Thrombocytopeni...	OMIM:243500
Alg1-Cdg	Hypoalbuminemia, Decreased liver function, Renal insufficiency, Abnormality of the kidney, Nephro...	ORPHA:79327
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ...	OMIM:614379
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El...	OMIM:620005
Methylmalonic Aciduria, Cblb Type	Vomiting, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Elevate...	OMIM:251110
Specific Granule Deficiency 1	Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ...	OMIM:245480
Familial Mediterranean Fever	Nephropathy, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdomi...	ORPHA:342
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Anorexia, Elevated circulating C-reactive protei...	ORPHA:91500
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Polycythemia Vera	Early satiety, Myelofibrosis, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocyt...	ORPHA:729
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Ren...	ORPHA:797
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Poikilocytosis, Unconjugated hyperbil...	ORPHA:79277
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ga...	ORPHA:79324
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepa...	OMIM:614921
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Nasogastric tube feeding, Elevated circulating aspartate aminotransfera...	OMIM:619685
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Abnormal circulating chemokine concentration, Acute kidne...	ORPHA:544482
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu...	OMIM:231530
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Abdomin...	ORPHA:98849
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Vomiting, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular d...	ORPHA:436271
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Infla...	ORPHA:1451
Coproporphyria, Hereditary	Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic ...	OMIM:121300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Hyperbiliverdinemia	Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd...	OMIM:614156
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Immunodeficiency 12	Recurrent viral infections, Complete or near-complete absence of specific antibody response to te...	OMIM:615468
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly	OMIM:231000
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ...	ORPHA:37202
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Nausea and vomiting, Hepatomegaly, Anemia	ORPHA:28
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Protein avoidance, Hepatomegaly, Hypolysinemia, Aminoaciduria, Hyperl...	OMIM:222700
Infantile Liver Failure Syndrome 2	Vomiting, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hyperam...	OMIM:616483
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanc...	ORPHA:330015
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Nausea and vomiting, Skin rash, Throm...	ORPHA:99828
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Elevated circulating ...	OMIM:607115
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen...	OMIM:618398
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:613913
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Decreased liver function, Elevated circulating aspartate aminotransferas...	OMIM:608779
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, Bile du...	OMIM:613658
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:614866
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemol...	OMIM:615387
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties, Prolonged neonatal jaundice, ...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties, Prolonged neonatal jaundice, ...	ORPHA:529799
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Pancyto...	OMIM:251100
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Feeding difficulties in infancy, Thrombocytopenia	OMIM:618624
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatitis...	ORPHA:90062
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu...	ORPHA:228123
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce...	ORPHA:439232
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Decreased liver function, Abnormal circulating enzyme concentration or a...	ORPHA:70472
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Elevated circulat...	OMIM:185070
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure	ORPHA:261519
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Nausea and vomiting, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa...	OMIM:259710
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo...	OMIM:614887
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Cirrhosis, Chronic hepatitis, Hepatomegaly, C...	OMIM:614602
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoar...	OMIM:606069
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla...	OMIM:602347
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ele...	OMIM:260920
Specific Granule Deficiency 2	Osteopenia, Recurrent pneumonia, Intractable diarrhea, Recurrent otitis media, Absent neutrophil ...	OMIM:617475
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:36426
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction...	OMIM:220110
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Diarrhea, Abnormal lymph ...	ORPHA:54251
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ...	OMIM:301072
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Diarrhea, Autoimmunity, Episc...	ORPHA:525731
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Hepatomegaly...	ORPHA:39041
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Conjunctivitis, He...	ORPHA:505248
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Vomiting, Abdominal colic, Decreased circulating IgG1 level...	ORPHA:90363
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti...	OMIM:616733
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ...	OMIM:605309
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom...	OMIM:616084
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Malabsorption, Epiphyseal stippling, Hydronephrosi...	ORPHA:912
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:537
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, C...	OMIM:618886
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Protei...	ORPHA:77261
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Niemann-Pick Disease, Type A	Vomiting, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransfer...	OMIM:257200
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Gastroparesis, Abnormality of ...	ORPHA:85443
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate dehydrogenase activity	OMIM:601815
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle...	ORPHA:449563
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Diarrhea, Reduced circulating aldolase concentration, Vo...	ORPHA:469
Mogs-Cdg	Decreased circulating IgG level, Nasogastric tube feeding, Hepatosplenomegaly, Decreased circulat...	ORPHA:79330
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced ...	OMIM:261750
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha gr...	OMIM:187900
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Episodi...	ORPHA:100078
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreas...	OMIM:613327
Kawasaki Disease	Hypoalbuminemia, Diarrhea, Hepatitis, Sterile pyuria, Conjunctivitis, Cervical lymphadenopathy, L...	ORPHA:2331
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Chronic constipation, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, ...	OMIM:619428
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Hijazi-Reis Syndrome	Hyperbilirubinemia, Gastroesophageal reflux, Chronic constipation, Gastrostomy tube feeding in in...	OMIM:301094
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:348
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Splenomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Lym...	ORPHA:85414
Maleylacetoacetate Isomerase Deficiency	Decreased liver function	OMIM:617596
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Myoglobinuria, Cirrhosis, Hepatomegaly, Portal fibrosis...	ORPHA:264580
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Abnormal circulating thyroglobulin ...	ORPHA:95716
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Elevated circulati...	OMIM:608068
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist...	ORPHA:521219
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:50918
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Elevated circulating hepatic transaminase concentration, Leukopenia...	OMIM:301056
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Nausea and vomiting, Lymphadenopath...	ORPHA:79477
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce...	ORPHA:64744
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic ...	OMIM:212065
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Recurrent urinary tract...	OMIM:617053
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Osteopenia, Renal amyloidosis, Abnormal circulating selenium concentratio...	ORPHA:79408
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Zygomycosis	Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis, Gastroi...	ORPHA:73263
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,...	ORPHA:2204
Lujo Hemorrhagic Fever	Diarrhea, Lymphopenia, Elevated circulating C-reactive protein concentration, Dysphagia, Increase...	ORPHA:319213
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Ane...	OMIM:612714
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Malabsorption, Leukocytosis, Splenomeg...	ORPHA:77297
Congenital Factor Xiii Deficiency	Hepatic failure, Inflammation of the large intestine, Myeloid leukemia	ORPHA:331
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic...	ORPHA:169090
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Vomiting, Splenomegaly, 3-hydroxydicarboxylic aciduria, Feeding difficulties in ...	OMIM:252010
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ...	ORPHA:2584
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Epiphyseal stippling, Splenomegaly, Mucopolysacchariduria	ORPHA:584
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir...	ORPHA:168577
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor...	OMIM:242860
Congenital Disorder Of Glycosylation, Type Ir	Osteopenia, Gastroesophageal reflux, Decreased liver function, Chronic constipation	OMIM:614507
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, ...	ORPHA:84064
Melioidosis	Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis, Abnormalit...	ORPHA:31202
Cold Agglutinin Disease	Diarrhea, Abnormal urinary color, Autoimmunity, Nausea and vomiting, Splenomegaly, Lymphadenopath...	ORPHA:56425
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ab...	ORPHA:79240
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly, Os...	ORPHA:391
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Di...	ORPHA:79332
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Osteopenia, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, ...	OMIM:614742
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Feeding difficulties, Thrombocytopenia	OMIM:616638
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Decreased liver function	OMIM:614867
Peroxisome Biogenesis Disorder 8B	Elevated circulating phytanic acid concentration, Constipation, Dysphagia, Decreased liver function	OMIM:614877
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Diarrhea, Hematochezia, Vomiting, Ascites,...	ORPHA:2070
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced plate...	OMIM:231200
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:620138
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurr...	OMIM:251260
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Acute kidney injury, Hyperphosphatemia, Oliguria, Decreased liver function, Vomi...	ORPHA:466650
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M...	ORPHA:79078
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Stuve-Wiedemann Syndrome 2	Dysphagia, Eczematoid dermatitis, Thrombocytopenia	OMIM:619751
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Glomer...	OMIM:619487
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding difficulties in infancy, Hyperalaninemi...	OMIM:619046
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Fructose Intolerance, Hereditary	Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hypophosphatemia, Reduced hepatic fructose-1,6-...	OMIM:229600
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminas...	OMIM:613610
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Ke...	ORPHA:79242
Giant Cell Arteritis	Hepatic failure, Abnormality of thrombocytes, Gastrointestinal infarctions, Renal insufficiency, ...	ORPHA:397
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Elevated circula...	OMIM:116920
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Feeding difficulties in infancy, Neutropenia, Hepatome...	OMIM:277400
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ascites, Hyponatremi...	ORPHA:79325
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Vomiting, Elevated circulating hepatic transaminase concentration, Ketonuria, Acute hepatic failu...	OMIM:615453
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Hepatic failure, Recurrent otitis media, Glue ear, Absence of renal corticomedu...	OMIM:619758
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Hypotriglyceridemia, Iron deficiency anemia, Constipation, Decreased HDL ch...	OMIM:618885
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Abnormal concentration of acylcarnitine in...	ORPHA:51208
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Urethra...	OMIM:613989
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephrosis, Micropenis, Thrombocytopeni...	ORPHA:163979
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Aicardi-Goutieres Syndrome 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Hepatomegaly, ...	OMIM:225750
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Protracted diarrhea, Chronic noninfectious lymphadenopathy, Bowel urg...	ORPHA:97287
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Chronic ...	OMIM:203800
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Elevated circulating alkaline phosphatase concentration,...	ORPHA:94093
Leptospirosis	Acute kidney injury, Uveitis, Diarrhea, Hepatitis, Nausea and vomiting, Skin rash, Elevated serum...	ORPHA:509
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Duplicated collecting system, Hepatic failure, Elevated circu...	OMIM:118450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti...	ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic...	OMIM:614946
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, Increased urinar...	OMIM:256550
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficienc...	ORPHA:36412
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Autoimmunity, Psoriasiform dermatitis, Autoi...	ORPHA:436252
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Diarrhea, Vomiting, Elevated circulating creatinine concentratio...	ORPHA:230
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Necrotizing Enterocolitis	Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Ascites, Leukocytosis, Hyponat...	ORPHA:391673
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea...	OMIM:614883
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Abnormality of Krebs cycle metabolism, Multiple glomerular cysts, Low plasma cit...	ORPHA:255210
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Chronic kidney disea...	OMIM:218330
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Sideroblastic anemia, Thiamine-responsive megaloblastic a...	OMIM:249270
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Poems Syndrome	Visceromegaly, Polycythemia, Sclerosis of hand bone, Ascites, Sclerosis of foot bone, Sclerosis o...	ORPHA:2905
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Abse...	OMIM:615710
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Mic...	OMIM:203700
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, A...	OMIM:246400
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Mitochondrial Trifunctional Protein Deficiency	Poor suck, Cholestasis, Hypocalcemia, Chronic hepatic failure, Left ventricular hypertrophy, Feed...	ORPHA:746
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Elevated circu...	OMIM:612852
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary...	ORPHA:231214
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage...	ORPHA:33226
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Hepatic steatosis, Renal tubular...	OMIM:614922
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Sengers Syndrome	Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Decreased acid ceramida...	OMIM:228000
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Protracted di...	ORPHA:67
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthr...	ORPHA:42642
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Hyperbilir...	OMIM:619534
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto...	ORPHA:35858
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure, Dysphagia	ORPHA:2724
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia	ORPHA:49827
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple...	ORPHA:575
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Sple...	OMIM:263700
Acute Promyelocytic Leukemia	Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thromb...	ORPHA:520
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Diarrhea, Vomiting, Increased circulating ferritin concentration, Thrombocytop...	ORPHA:3240
Niemann-Pick Disease Type C	Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Feeding difficulties, Hyperglycinemia, Thrombocytopenia, Hypernatremia,...	OMIM:620423
Livedoid Vasculopathy	Abnormality of complement system, Polycythemia, Abnormal circulating lipid concentration, Systemi...	ORPHA:542643
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal...	ORPHA:289157
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Persistence of hemoglo...	OMIM:260400
Icf Syndrome	Lymphopenia, Malabsorption, Anemia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function	OMIM:618437
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Ot...	OMIM:612541
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Gastrointestinal hemorrhage, L...	ORPHA:809
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Familial Mediterranean Fever	Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Anorexia, Hyperammonemia, Hyperglutamatemia, Hyperprolinem...	ORPHA:3008
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Hyperbilirubinemia	OMIM:609734
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Early ossification of c...	OMIM:208500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Malabsorption, Agammaglobulinemia, Anemia, Reduced bone mineral density, Abnormality...	ORPHA:935
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Nephrocalcinosis, Diarrhea, Chronic mucocutaneous candidiasis...	OMIM:240300
Lesch-Nyhan Syndrome	Gout, Renal insufficiency, Hyperuricemia, Hematuria, Anemia	ORPHA:510
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency 31C	Osteopenia, Diarrhea, Eczematoid dermatitis, Decreased lymphocyte proliferation in response to an...	OMIM:614162
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma...	OMIM:617052
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Increased ci...	ORPHA:723
Alg3-Cdg	Osteopenia, Feeding difficulties, Abnormal circulating enzyme concentration or activity, Decrease...	ORPHA:79321
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu...	OMIM:169400
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating lactate dehydrogenase concentration, In...	ORPHA:635
Congenital Syphilis	Pneumonia, Periostitis, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Ma...	ORPHA:499009
Ogden Syndrome	Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinem...	OMIM:300855
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Osteopenia, Splenomegaly	OMIM:618107
Snakebite Envenomation	Acute kidney injury, Vomiting, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Hyponat...	ORPHA:449285
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Kaposiform Lymphangiomatosis	Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, ...	ORPHA:464329
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Elevated circulating creatine kinase concentration, Feeding difficulties in infan...	OMIM:618775
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat...	ORPHA:67044
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Episodic vomiting, Decreased serum creat...	OMIM:612736
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev...	ORPHA:69126
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre...	OMIM:615577
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Bachmann-Bupp Syndrome	Feeding difficulties in infancy, Hyperbilirubinemia	OMIM:619075
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Increased intestinal transit ...	OMIM:619377
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Elevated circulating creatinine concentration, Distal renal tubul...	OMIM:179800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B...	ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Pancytopen...	OMIM:613990
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:90033
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Peroxisome Biogenesis Disorder 6B	Prolonged neonatal jaundice, Elevated circulating phytanic acid concentration, Decreased liver fu...	OMIM:614871
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Decreased circulating alpha-mannosidase activity, Reduced leukocyte alpha-mannosida...	OMIM:248500
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Holocarboxylase Synthetase Deficiency	Vomiting, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Skin rash, Hyperammon...	OMIM:253270
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Immune Thrombocytopenia	Hematuria, Gastrointestinal hemorrhage, Thrombocytopenia, Anti-platelet antigen antibody positivity	ORPHA:3002
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia...	OMIM:242840
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-...	OMIM:615605
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Ascites, Abnormal renal corticomedullary...	OMIM:617397
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Pontocerebellar Hypoplasia, Type 13	Feeding difficulties, Constipation, Decreased liver function	OMIM:618606
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Increased circulating lactate dehydrogena...	ORPHA:514
Cocaine Intoxication	Acute kidney injury, Vomiting, Increased circulating lactate dehydrogenase concentration, Gastroi...	ORPHA:90068
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc,...	OMIM:201100
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor...	ORPHA:85436
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di...	ORPHA:20
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm...	ORPHA:486
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Feeding difficulties, Gastroesophageal reflux, Thrombocytopenia, Chronic constipation	OMIM:616577
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Vomiting, Intestinal pseudo-obstruction, Hydronephrosis, Feeding difficulties in infancy, Thrombo...	OMIM:300048
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio...	OMIM:248250
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Constipation, Delayed proximal femo...	ORPHA:90673
Bloom Syndrome	Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Acute lymphoblastic...	ORPHA:125
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Feedi...	ORPHA:79282
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormality of the lower urinary tract	ORPHA:101009
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Tarp Syndrome	Horseshoe kidney, Hepatic failure, Hydronephrosis	OMIM:311900
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, O...	OMIM:224230
Hennekam Syndrome	Erysipelas, Ascites, Lymphopenia, Horseshoe kidney, Malabsorption, Splenomegaly, Lymphangioma, Hy...	ORPHA:2136
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia, Thrombocytopenia	OMIM:615750
American Trypanosomiasis	Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Achalasia, Lymphadenopathy, Myocardit...	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin...	OMIM:124000
Lichen Planopilaris	Hepatitis	ORPHA:525
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Osteoporosis, Neonatal hyperbilirubinemia	ORPHA:73272
Whipple Disease	Uveitis, Diarrhea, Gastrointestinal hemorrhage, Anorexia, Malabsorption, Splenomegaly, Infectious...	ORPHA:3452
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Acute Disseminated Encephalomyelitis	Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glyc...	ORPHA:83597
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, In...	ORPHA:51
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr...	ORPHA:79329
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re...	OMIM:179830
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Hypospadias, Elevated gamma-glutamyl...	OMIM:243800
Serotonin Syndrome	Acute kidney injury, Nausea, Hepatic failure, Diarrhea	ORPHA:43116
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Vomiting, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary...	OMIM:609727
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Hepatic steatosis, ...	OMIM:210900
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Hepatic steatosis, Splenomegaly, Glomerulopathy, Pancreatitis, ...	ORPHA:2348
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protuberant abdomen, Anemi...	OMIM:230900
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ...	ORPHA:454831
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Stt3B-Cdg	Micropenis, Feeding difficulties, Thrombocytopenia	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Feeding difficulties, Thrombocytopenia	OMIM:615597
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosi...	ORPHA:974
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Vesicoureteral reflux, Chronic constipation, Neutropenia, Micropenis...	ORPHA:163956
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Tubulointerstiti...	ORPHA:79259
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Feeding difficulties in infancy, Hy...	OMIM:239200
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia...	OMIM:616271
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera...	OMIM:603467
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Peripartum Cardiomyopathy	Increased circulating interferon-gamma concentration, Autoimmunity, Left ventricular hypertrophy,...	ORPHA:563
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Horseshoe kidney, Pancreatic cysts, Hepatosplenomegaly, Leukocyto...	OMIM:274000
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Acute hepatic failure, Myoglobinuria, Hyperkalemia, Eleva...	ORPHA:423
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Feeding difficulties in infancy, Abnormal circulating thyroglobulin ...	ORPHA:90674
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, F...	OMIM:611209
Wolfram Syndrome 1	Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro...	OMIM:222300
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:244242
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function	OMIM:600666
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis	ORPHA:363558
Hoyeraal-Hreidarsson Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Splenomegaly, Hyperuricemia, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He...	ORPHA:79083
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Chronic Mucocutaneous Candidiasis	Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Feeding difficulties in infa...	ORPHA:1334
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchit...	ORPHA:32960
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Feedi...	OMIM:223900
Nodular Non-Suppurative Panniculitis	Autoimmunity, Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegal...	ORPHA:33577
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia	OMIM:244460
Biotinidase Deficiency	Diarrhea, Vomiting, Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Feeding difficulti...	OMIM:253260
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Anti-platelet antigen antibody positivity, Thrombocytopenia, Increased mea...	OMIM:620475
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Gastroesophageal reflux, Decreased circulating IgA level, Decrea...	OMIM:620040
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:306400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Feeding difficulties, Aspiration pneumonia	ORPHA:95232
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Coarse metaphyseal trabecularization, Acut...	ORPHA:2092
Von Willebrand Disease	Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Ab...	ORPHA:903
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Renal agenesis, Hors...	OMIM:227646
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc...	OMIM:227645
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thromboc...	OMIM:617941
Whim Syndrome	Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in...	ORPHA:51636
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Proteinu...	OMIM:123550
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Recurrent skin infections, Gastrostomy tube feeding in infancy, Anemia, Craniosy...	ORPHA:79396
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis,...	ORPHA:774
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Feeding difficulties, Thrombocytopenia	OMIM:617710
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Hydroureter, Megacystis, Portal hypertension, Hydronephrosis	OMIM:619431
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Lymphopenia, Pancytopenia, L...	OMIM:620654
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increas...	OMIM:215600
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Vomiting, O...	OMIM:619475
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste...	ORPHA:64
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Vomiting, Decreased liver function	OMIM:602199
Chronic Granulomatous Disease	Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory abnormality of the...	ORPHA:379
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c...	OMIM:620358
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Kasabach-Merritt Phenomenon	Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly...	ORPHA:2330
Occipital Horn Syndrome	Osteopenia, Gastroesophageal reflux, Rickets, Hepatitis, Recurrent urinary tract infections, Chol...	ORPHA:198
22Q11.2 Deletion Syndrome	Feeding difficulties in infancy, Hypospadias, Polycystic kidney dysplasia, Chronic otitis media, ...	ORPHA:567
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Thrombocytopenia, Micropenis, Acute lym...	OMIM:606593
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp...	OMIM:227650
Blue Rubber Bleb Nevus	Intestinal bleeding, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Pachydermoperiostosis	Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Malabsorption, Abnormal cortic...	ORPHA:2796
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt...	OMIM:600901
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin...	ORPHA:3132
Glycogen Storage Disease Ii	Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactat...	OMIM:232300
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Enuresis nocturna, Recurrent pneumonia, Diarrhea, Dec...	ORPHA:420741
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Acute myeloid ...	OMIM:305000
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Recurrent pneumonia, Gastroesophageal reflux, Impaired...	OMIM:188400
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Constipation, High nonceruloplasmin-bound serum copper, Thrombocytopenia, Gastrostomy tube feedin...	ORPHA:457351
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Red-brown urine, Purple urine, Osteolysis, Erythroid hyperpl...	ORPHA:95159
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Osteopenia, Thrombocytopenia, Anemia, Osteoporosis	OMIM:612199
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Hematuria, Feeding difficulties in infancy, Hypophosphatemia, Proxim...	ORPHA:534
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Gastroesophageal reflux, Aplasia of the thymus, Prolonged neonatal jaundice, Unconjugated hyperbi...	OMIM:620186
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic constipation, Micropenis, Thrombocytopenia, Hepatomegaly, Chronic diarrhea, Decreased hem...	OMIM:619005
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia, Chronic otitis media, Feeding dif...	ORPHA:261250
Maternal Uniparental Disomy Of Chromosome 6	Eczematoid dermatitis, Thrombocytopenia	ORPHA:96181
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Recon Progeroid Syndrome	Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Noonan Syndrome 4	Hydronephrosis, Ureteral duplication, Thrombocytopenia	OMIM:610733
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Malnutrition, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Eosinophilia, I...	ORPHA:75565
Developmental And Epileptic Encephalopathy 50	Diarrhea, Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis,...	OMIM:616457
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal art...	OMIM:617913
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo...	ORPHA:86816
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Renal hypoplasia, Gastroesophageal reflux, Hyperbilirubinemia, R...	OMIM:210710
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acid...	OMIM:259730
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Recurrent otitis media, Feeding difficulties in infancy, Thrombocytopenia	ORPHA:261323
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Down Syndrome	Gastroesophageal reflux, Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphati...	ORPHA:870
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Feeding difficulties	OMIM:613986
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ureterocele, Decreased liver function	OMIM:614863
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	OMIM:616737
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:269700
Dubowitz Syndrome	Eczematoid dermatitis, Malabsorption, Chronic diarrhea, Hydronephrosis, Thrombocytopenia, Anemia,...	ORPHA:235
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Chronic diarrhea, Thrombocytopenia	OMIM:620072
Fanconi Anemia, Complementation Group B	Micropenis, Aplastic anemia, Renal agenesis, Thrombocytopenia	OMIM:300514
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially ...	ORPHA:274
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Deeah Syndrome	Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Micropenis, Thrombocytope...	OMIM:619004
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Leukopenia, A...	ORPHA:84
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Dysphagia, Thrombocytopenia	ORPHA:572798
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Otitis media, Chronic rhinitis, Hepatomegaly, Hypophosphatemia, Osteo...	ORPHA:667
Bcard Syndrome	Osteopenia, Thrombocytopenia	OMIM:612394
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Gastroesophageal reflux, Reduced renal corticomedullary differentiat...	OMIM:122470
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:608594
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena	ORPHA:853
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Axial malrotation of the kidney, Thrombocytopenia, Abnormality of the kidney	ORPHA:3320
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Chronic diarr...	ORPHA:647
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Feeding difficulties in infancy, Constipation, Abdominal distention, Increase...	OMIM:218700
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Jacobsen Syndrome	Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti...	ORPHA:2308
Viss Syndrome	Atopic dermatitis, Gastroesophageal reflux, Eczematoid dermatitis, Increased circulating IgE leve...	OMIM:619472
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections	ORPHA:244
Familial Tumoral Calcinosis	Nephrocalcinosis, Hyperostosis, Skin rash, Splenomegaly, Hepatomegaly	ORPHA:53715
Fibular Hemimelia	Craniosynostosis, Abnormal bone ossification, Renal dysplasia, Thrombocytopenia	ORPHA:93323
Camurati-Engelmann Disease	Craniofacial osteosclerosis, Urinary retention, Leukopenia, Hyperostosis, Splenomegaly, Cortical ...	ORPHA:1328
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Atelis Syndrome 2	Anemia, Gastroesophageal reflux, Thrombocytopenia	OMIM:620185
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure, Nasogastric tube feeding	ORPHA:501
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Myoclonic Epilepsy Of Lafora 1	Hepatic failure	OMIM:254780
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Myelofibrosis, Eczematoid dermatitis, Feeding difficulties	OMIM:607721
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf...	ORPHA:116
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Abnormality of the lymphatic system, Hydronephrosis, Thrombocytopenia,...	ORPHA:487796
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disea...	ORPHA:90340
Jacobsen Syndrome	Hypospadias, Annular pancreas, Thrombocytopenia	OMIM:147791
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Cystic Fibrosis	Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci...	ORPHA:586
Osteogenesis Imperfecta	Osteopenia, Abnormal cortical bone morphology, Reduced bone mineral density, Intestinal obstructi...	ORPHA:666
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Gastroesophageal reflux, Vesicovaginal fistula, Ureteropelvic juncti...	OMIM:300896
Roberts Syndrome	Craniosynostosis, Long penis, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Herpes Simplex Virus Encephalitis	Leukocytosis, Nausea and vomiting, Hyponatremia, Neutrophilia, Elevated circulating C-reactive pr...	ORPHA:1930
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections	ORPHA:2273
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Synovitis, Feeding difficulties in infancy, Amegakaryocytic thr...	OMIM:163950
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections	ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Unc93b1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Unc93b1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Early cellular mechanisms of type I interferon-driven susceptibility to tuberculosis.	Cell (November 2023)	Unc93b1^{tm1(KOMP)Vlcg}	PMC10757650
UNC93B1 Is Widely Expressed in the Murine CNS and Is Required for Neuroinflammation and Neuronal Injury Induced by MicroRNA let-7b.	Frontiers in immunology (September 2021)	Unc93b1^{tm1(KOMP)Vlcg}	PMC8475950
Endosomal Toll-Like Receptors 7 and 9 Cooperate in Detection of Murine Gammaherpesvirus 68 Infection.	Journal of virology (January 2019)	Unc93b1^{tm1(KOMP)Vlcg}	PMC6340039
Tissue-Resident Macrophages Are Locally Programmed for Silent Clearance of Apoptotic Cells.	Immunity (November 2017)	Unc93b1^{tm1(KOMP)Vlcg}	29150239
UNC93B1 is essential for the plasma membrane localization and signaling of Toll-like receptor 5.	Proceedings of the National Academy of Sciences of the United States of America (April 2014)	Unc93b1^{tm1(KOMP)Vlcg}	PMC4024908

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Unc93b1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Unc93b1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Unc93b1^{tm378623(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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