Gene: Ptprc MGI:97810

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

protein tyrosine phosphatase, receptor type, C

Synonyms:

Lyt-4, T200, CD45, Ly-5, B220

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 Ptprc 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 Ptprc (1 diseases)
Human diseases predicted to be associated with Ptprc (2042 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive		Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971

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

Disease	Matching phenotypes	Source
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce...	OMIM:615615
Immunodeficiency 40	Lymphopenia	OMIM:616433
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre...	OMIM:614493
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia	OMIM:200900
Reticular Dysgenesis	Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit...	OMIM:267500
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG...	OMIM:233650
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p...	OMIM:312863
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu...	OMIM:617006
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia	OMIM:615607
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Immunodeficiency 8	Lymphopenia	OMIM:615401
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Diarrhea 6	Diarrhea, Abdominal pain	OMIM:614616
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron...	OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Immunodeficiency 14A, Autosomal Dominant	Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel...	OMIM:615513
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level...	OMIM:615285
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ...	OMIM:247800
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia...	OMIM:607594
Lactose Intolerance, Adult Type	Flatulence, Diarrhea, Abdominal pain	OMIM:223100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin...	OMIM:618495
Caspase 8 Deficiency	Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le...	OMIM:607271
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal colic	ORPHA:35122
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat...	ORPHA:169079
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev...	OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,...	ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 84	B lymphocytopenia, Perianal abscess, Splenomegaly	OMIM:619437
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Re...	ORPHA:444463
Immunodeficiency 50	Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni...	OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ...	OMIM:611926
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec...	OMIM:300400
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Immunodeficiency 25	Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:610163
Immunodeficiency 76	B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia	OMIM:619164
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus, Decreased serum complement C8	OMIM:613790
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 11	Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia	OMIM:615206
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen...	OMIM:617241
Immunodeficiency 19	Lymphopenia	OMIM:615617
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea...	ORPHA:169160
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym...	OMIM:300853
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack of T cel...	ORPHA:277
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a...	OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, R...	ORPHA:3261
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis	OMIM:314000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni...	OMIM:601457
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas...	OMIM:601495
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De...	OMIM:619281
Immunodeficiency 52	Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly...	OMIM:617514
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega...	ORPHA:100024
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone...	OMIM:209950
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc...	ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:606843
C1Q Deficiency	Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer...	OMIM:613652
Immunodeficiency With Hyper-Igm, Type 1	Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarge...	OMIM:308230
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea	OMIM:614102
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic leukemia, Cerv...	ORPHA:514
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul...	OMIM:304790
Immunodeficiency 75	Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli...	OMIM:619126
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Anal Sphincter Dysplasia	Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation	OMIM:105563
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Leukopenia	OMIM:310350
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula...	OMIM:619632
C3 Glomerulopathy	Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ...	ORPHA:329918
X-Linked Lymphoproliferative Disease	Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul...	ORPHA:2442
Ras-Associated Autoimmune Leukoproliferative Disorder	Autoimmunity, Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S...	OMIM:614470
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp...	OMIM:615934
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting	ORPHA:103909
Primary Membranoproliferative Glomerulonephritis	C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi...	ORPHA:54370
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Antinuclear antibody positivity	OMIM:613495
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega...	OMIM:613101
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Cirrhosis, Familial	Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis	OMIM:118900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ...	OMIM:308240
Pgm3-Cdg	Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ...	ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re...	ORPHA:276
Immunodeficiency, Common Variable, 2	Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l...	OMIM:240500
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ...	OMIM:617388
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren...	OMIM:600802
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Lipoprotein Glomerulopathy	Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Immunodeficiency 13	B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren...	OMIM:615518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi...	OMIM:618986
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo...	ORPHA:911
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Hyper-Igd Syndrome	Leukocytosis, Vomiting, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic ...	OMIM:260920
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ...	ORPHA:217390
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c...	ORPHA:2134
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Autoimmune Hepatitis	Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he...	ORPHA:2137
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora...	OMIM:613953
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections	OMIM:615214
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess	OMIM:618108
Transcobalamin Deficiency	Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l...	ORPHA:859
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma...	OMIM:152700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmunity, Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis...	ORPHA:331206
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer...	OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme...	ORPHA:567544
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency 37	Infectious encephalitis, Colitis, Decreased proportion of central memory CD4-positive, alpha-beta...	OMIM:616098
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement...	ORPHA:79087
Simple Cryoglobulinemia	Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Monoclonal immunog...	ORPHA:91139
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre...	OMIM:618944
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respiratory tract inf...	OMIM:608184
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Nephritis	OMIM:614420
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant...	OMIM:618394
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Jaundice	OMIM:234350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L...	OMIM:616100
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg...	OMIM:612840
Complement Component C1R/C1S Deficiency	Complement deficiency, Autoimmunity, Nephritis	OMIM:216950
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ...	OMIM:619644
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne...	ORPHA:572
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Boutonneuse Fever	Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM l...	ORPHA:83313
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,...	OMIM:603554
Complement Component C1S Deficiency	Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Sepsis In Premature Infants	Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Anemia, R...	ORPHA:90051
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor...	OMIM:308220
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology	OMIM:609529
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat...	OMIM:602450
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Tubulointerstitial Nephritis With Uveitis	Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl...	OMIM:607665
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Lymphadenopathy, Antinuclear antibody positivity, Diarrhea, Vomiting, Nephrotic...	ORPHA:93552
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Hyperprolinemia Type 1	Prolinuria, Proteinuria, Nephropathy	ORPHA:419
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul...	OMIM:242700
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease...	ORPHA:449395
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou...	OMIM:619510
Systemic Capillary Leak Syndrome	Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology...	ORPHA:188
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Indolent Systemic Mastocytosis	Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In...	ORPHA:98848
Adenine Phosphoribosyltransferase Deficiency	Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch...	ORPHA:976
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Nephrotic Syndrome, Type 16	Hematuria, Proteinuria, Nephrotic syndrome	OMIM:617783
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat...	OMIM:137950
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Thymoma	Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol...	ORPHA:99867
Masp2 Deficiency	Complement deficiency, Systemic lupus erythematosus	OMIM:613791
Autosomal Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth...	ORPHA:33110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r...	OMIM:102700
Multiple Myeloma	Nephrotic syndrome, Increased circulating IgA level, Lymphadenopathy, Decreased circulating antib...	ORPHA:29073
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili...	OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo...	ORPHA:35078
Tularemia	Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou...	ORPHA:3392
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine	OMIM:616868
Adult-Onset Still Disease	Myocarditis, Leukocytosis, Hepatomegaly, Restrictive ventilatory defect, Pericarditis, Hepatitis,...	ORPHA:829
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ...	OMIM:616576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Neutropenia, Tubulointerstitia...	ORPHA:37042
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Antineutrophil antibody positivity, Cardiomegaly, Rheumatoi...	ORPHA:99931
Inflammatory Bowel Disease 11	Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia	OMIM:191390
Pulmonary Nodular Lymphoid Hyperplasia, Familial	IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le...	OMIM:178610
X-Linked Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis...	ORPHA:47
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephalitis, Colitis, Cutaneous anergy,...	OMIM:209920
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirat...	OMIM:613501
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin...	OMIM:614700
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation...	OMIM:600903
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Eosinophilia, Asthma, Pneumonia	OMIM:617638
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct...	OMIM:613179
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ...	OMIM:301000
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome...	ORPHA:824
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Amyloidosis, Familial Visceral	Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P...	OMIM:105200
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch...	OMIM:618177
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:301028
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Autoimmunity, Focal segmental glomerulosclerosis, Neut...	ORPHA:1830
Nephrotic Syndrome, Type 19	Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,...	OMIM:618178
Iga Pemphigus	Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib...	ORPHA:555905
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Autoinflammation With Infantile Enterocolitis	Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ...	OMIM:616050
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:618176
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Progressive Multifocal Leukoencephalopathy	CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology, Abnormal p...	ORPHA:217260
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas...	ORPHA:340
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Candidiasis, Familial, 2	Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia	OMIM:212050
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ...	OMIM:613502
Microscopic Polyangiitis	Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Hematuria, Pancreatitis, Arthri...	ORPHA:727
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I...	OMIM:150550
Aspergillosis	Sinusitis, Neutropenia, Hepatitis, Pleuritis, Eosinophilia, Chronic pulmonary obstruction, Infect...	ORPHA:1163
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ...	OMIM:608106
Lymphoproliferative Syndrome 1	Autoimmunity, Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le...	OMIM:613011
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati...	OMIM:202700
Selective Igm Deficiency	Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	ORPHA:331235
Thymic Aplasia	Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi...	ORPHA:83471
Trimethylaminuria	Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria	OMIM:602079
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati...	ORPHA:37748
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Jessner Lymphocytic Infiltration Of The Skin	Abnormal lymphocyte morphology	ORPHA:33314
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu...	OMIM:616818
Whim Syndrome 1	Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve...	OMIM:193670
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Myocarditis, Septic arthritis, Diarrhea, Hemolytic anemia, Abnormality of interfer...	ORPHA:544482
Immunodeficiency 7	Lymphadenopathy, Autoimmunity, Hypereosinophilia	OMIM:615387
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:613944
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir...	OMIM:606367
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency	OMIM:161900
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha...	ORPHA:139402
Beta-Thalassemia Intermedia	Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel...	ORPHA:231222
Autoimmune Hemolytic Anemia, Cold Type	Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody...	OMIM:615846
Griscelli Syndrome	Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypo...	ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612926
Diarrhea 9	Diarrhea	OMIM:618168
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ...	OMIM:601894
Sucrase-Isomaltase Deficiency, Congenital	Diarrhea, Abdominal pain	OMIM:222900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k...	OMIM:603965
Brucellosis	Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ...	ORPHA:1304
Acute Erythroid Leukemia	Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Common Variable Immunodeficiency	Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media,...	ORPHA:1572
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Heme Oxygenase 1 Deficiency	Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Coombs-positive hemo...	OMIM:614034
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ...	OMIM:307200
Cystic Echinococcosis	Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob...	ORPHA:400
Immunodeficiency 36	Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L...	OMIM:616005
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, T...	OMIM:254900
Lassa Fever	Conjunctivitis, Dysphagia, Oliguria, Increased circulating IgM level, Diarrhea, Jaundice	ORPHA:99824
Immunodeficiency 23	Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,...	OMIM:615816
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Complement Component 4A Deficiency	Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi...	OMIM:614380
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:605258
Macrophage Activation Syndrome	Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato...	ORPHA:158061
Lujo Hemorrhagic Fever	Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Vomiting, Nausea, Rhinitis, Fulminant hepatitis...	ORPHA:319213
Cap Polyposis	Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal pain, Constipation	ORPHA:160148
Immunodeficiency 56	Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre...	OMIM:615207
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Microangiopathic hemolytic anemia, Decreased serum complement factor H, Anuria, H...	OMIM:235400
Igg4-Related Aortitis	Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo...	ORPHA:449400
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia	OMIM:615715
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon...	OMIM:615861
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren...	ORPHA:2688
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur...	OMIM:618852
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Chronic bronchitis, Pneumonia	OMIM:614069
Preeclampsia	Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease...	ORPHA:275555
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Angiostrongyliasis	Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, Increased cir...	ORPHA:74
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...	ORPHA:731
Chilblain Lupus	Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System...	ORPHA:90280
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Legionnaires Disease	Myocarditis, Pericarditis, Infectious encephalitis, Respiratory insufficiency, Endocarditis, Lymp...	ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Rec...	ORPHA:183675
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Autoimmunity, Eczema, Vomiting, Megaloblastic anemia, Decrease...	OMIM:617780
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir...	ORPHA:470
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph...	OMIM:608709
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei...	OMIM:613237
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, De...	OMIM:215250
Insulin-Resistance Syndrome Type B	Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Enlarged ovaries, Osteoarth...	ORPHA:2298
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:375
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia	OMIM:618963
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abscess, Rheumatoid factor positive, ...	OMIM:618935
Alopecia Areata 1	Autoimmunity	OMIM:104000
C3 Glomerulopathy 3	Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis	OMIM:614809
Isolated Agammaglobulinemia	Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system,...	ORPHA:229717
Glycogen Storage Disease Ixb	Diarrhea	OMIM:261750
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico...	OMIM:259720
Diffuse Alveolar Hemorrhage	Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Hematuria, Decreased serum comple...	ORPHA:90060
Immunodeficiency 32B	Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections	OMIM:226990
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph...	OMIM:613913
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased liver funct...	OMIM:301045
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina...	ORPHA:343
Pneumocystosis	Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio...	ORPHA:723
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Nephrosialidosis	Ascites, Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Renal insufficiency	OMIM:256150
Cold Agglutinin Disease	Autoimmunity, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Diarrhea, Hemo...	ORPHA:56425
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Pelizaeus-Merzbacher Disease	Sudanophilic leukodystrophy, Cerebral dysmyelination, Reduction of oligodendroglia, Abnormal CNS ...	OMIM:312080
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu...	ORPHA:411593
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat...	ORPHA:2585
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome	OMIM:617609
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Diarrhea, Reticulocytosis, Thr...	ORPHA:54057
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Hematuri...	ORPHA:91138
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic...	OMIM:614131
Proteinuria, Chronic Benign	Albuminuria, Proteinuria	OMIM:618884
Colchicine Poisoning	Myocarditis, Leukocytosis, Vomiting, Nausea, Oliguria, Diarrhea, Renal insufficiency	ORPHA:31824
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis...	ORPHA:69126
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat...	OMIM:237800
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu...	ORPHA:79078
Hypocomplementemic Urticarial Vasculitis	Autoimmunity, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Arthritis, Splenom...	ORPHA:36412
Ebola Hemorrhagic Fever	Leukopenia, Hepatitis, Cough, Increased circulating antibody level, Lymphopenia, Acute pancreatit...	ORPHA:319218
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease	OMIM:603278
Rabies	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:770
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ...	ORPHA:543
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Leishmaniasis	Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo...	ORPHA:507
Omenn Syndrome	Leukocytosis, Autoimmunity, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno...	ORPHA:39041
Galactosemia Iii	Hepatomegaly, Vomiting, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice	OMIM:230350
Igg4-Related Retroperitoneal Fibrosis	Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o...	ORPHA:49041
Igg4-Related Submandibular Gland Disease	Autoimmunity, Cholangitis, Prostatitis, Lymphadenopathy, Xerostomia, Retroperitoneal fibrosis, In...	ORPHA:449432
Lymphatic Filariasis	Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphati...	ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash	OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce...	OMIM:242860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev...	ORPHA:275
Babesiosis	Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ...	ORPHA:108
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:187950
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Bloody diarrhea, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia,...	ORPHA:90038
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Nausea, Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain	ORPHA:103907
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Pseudo-Torch Syndrome 3	Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopen...	OMIM:618886
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Fechtner syndrome	Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki...	OMIM:153640
Hereditary Spherocytosis	Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased...	ORPHA:822
Gaucher Disease Type 1	Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, ...	ORPHA:77259
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula...	OMIM:259710
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Genetic Recurrent Myoglobinuria	Myositis, Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insuff...	ORPHA:99845
Ataxia-Telangiectasia	Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia...	OMIM:208900
Diffuse Cutaneous Systemic Sclerosis	Autoimmunity, Dysphagia, Xerostomia, Arthritis, Oliguria, Gastroesophageal reflux, Renal insuffic...	ORPHA:220393
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Nephropathy	ORPHA:2820
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p...	OMIM:613812
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate, Tubulointers...	ORPHA:85450
Q Fever	Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem...	ORPHA:781
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice...	ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility...	OMIM:266265
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ...	OMIM:266600
Lecithin:Cholesterol Acyltransferase Deficiency	Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria	OMIM:245900
Lymphoproliferative Syndrome 2	Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt...	OMIM:615122
Melioidosis	Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ...	ORPHA:31202
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod...	ORPHA:289390
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp...	OMIM:616871
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:161950
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m...	ORPHA:98850
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Prolidase Deficiency	Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d...	OMIM:170100
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice	OMIM:312500
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Vomiting	OMIM:606528
Brunner Syndrome	Diarrhea	OMIM:300615
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Cyanosis And Hepatic Disease	Dyspnea, Hepatitis	OMIM:219400
Avian Influenza	Productive cough, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, Pneumotho...	ORPHA:454836
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:615573
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Complement Component 4B Deficiency	Chronic active hepatitis	OMIM:614379
Coproporphyria, Hereditary	Hepatomegaly, Constipation, Vomiting, Splenomegaly, Increased urinary porphobilinogen, Diarrhea, ...	OMIM:121300
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
Beta-Thalassemia	Hepatomegaly, Respiratory insufficiency, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, ...	ORPHA:848
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Good Syndrome	Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane...	ORPHA:169105
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa...	ORPHA:48435
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Vomiting, Decreased circulating IgA level...	OMIM:275350
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Cutaneous mastocytosis, Short foot, Joint contracture of the 5th ...	OMIM:248910
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver di...	OMIM:602114
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Eosinophilopenia	Autoimmunity, Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Felty Syndrome	Sinusitis, Autoimmunity, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha...	ORPHA:47612
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro...	ORPHA:75564
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:567548
Majeed Syndrome	Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,...	ORPHA:77297
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur...	OMIM:618523
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro...	OMIM:603552
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Nephropathy	OMIM:614227
Neuraminidase Deficiency	Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ...	OMIM:256550
Solitary Rectal Ulcer Syndrome	Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Episodic abdominal pain, Intermittent diarrhea...	ORPHA:209964
Wilson Disease	Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste...	ORPHA:905
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h...	OMIM:612541
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Retinitis Pigmentosa 59	Hepatomegaly, Micropenis, Renal insufficiency	OMIM:613861
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency	ORPHA:79312
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo...	ORPHA:231226
Unclassified Myelodysplastic Syndrome	Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity	ORPHA:98827
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,...	OMIM:617303
Autoimmune Hemolytic Anemia	Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology	ORPHA:98375
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ...	OMIM:242900
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Splenomegaly, Increased ur...	OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ...	OMIM:613673
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/...	ORPHA:227990
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:656
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro...	OMIM:619113
Immunodeficiency 82 With Systemic Inflammation	Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total...	OMIM:619381
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Agammaglobulinemia, X-Linked	Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni...	OMIM:300755
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean cor...	OMIM:615234
Senior-Loken Syndrome 1	Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease	OMIM:266900
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn...	OMIM:301006
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Lymphocytic interstitial ...	ORPHA:133
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Autoimmune Polyendocrinopathy Type 3	Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmune hypoparathyroidism, Tubulointerstitial ...	ORPHA:227982
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma	OMIM:114550
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr...	OMIM:300291
Lactase Deficiency, Congenital	Diarrhea	OMIM:223000
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ...	OMIM:615952
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Beta-Thalassemia Major	Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula...	ORPHA:231214
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na...	ORPHA:540
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit...	ORPHA:562639
Pauci-Immune Glomerulonephritis	Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer...	ORPHA:93126
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Myh9-Related Disease	Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit...	ORPHA:182050
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia, Anemia	ORPHA:158014
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:600995
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Senior-Loken Syndrome 4	Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease	OMIM:606996
Congenital Bile Acid Synthesis Defect Type 2

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