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Gene: Rassf5 MGI:1926375

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Ras association (RalGDS/AF-6) domain family member 5

Synonyms:

1300019G20Rik, Nore1A, Nore1B, Rapl

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 Rassf5 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 Rassf5 (0 diseases)
Human diseases predicted to be associated with Rassf5 (1015 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rassf5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De...	OMIM:617006
Immunodeficiency 64 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defecti...	OMIM:618534
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Lymph...	OMIM:615897
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc...	OMIM:613496
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal...	OMIM:618982
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c...	OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c...	OMIM:603909
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level	OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Anti-U1 ribonucleoprotein antibo...	OMIM:619375
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir...	OMIM:618495
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ...	OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory...	OMIM:614470
Immunodeficiency 112	Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea...	OMIM:620449
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Increased circulating IgG level, Salmonella osteomyeliti...	OMIM:209950
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
Immunodeficiency, Common Variable, 2	Decreased circulating total IgM, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Partial a...	OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas...	OMIM:615615
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia, Lymphoproliferative disorder	OMIM:242880
Immunodeficiency 25	Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le...	OMIM:610163
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ...	OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat...	ORPHA:169154
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating total IgM, Recurrent otitis media, Abnormal immunoglobulin level, Absent pe...	ORPHA:98813
Systemic Lupus Erythematosus 16	Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, Perinuclear an...	OMIM:614420
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Bence Jones Proteinu...	ORPHA:100024
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi...	ORPHA:277
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Complement Component 3 Deficiency, Autosomal Recessive	Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec...	OMIM:613779
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym...	ORPHA:276
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Neoplasm...	ORPHA:99867
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit...	ORPHA:329918
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M...	OMIM:153600
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc...	OMIM:312863
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Hodgkin lymphoma, Impaired lymphocyte transformation with phytohemag...	OMIM:236000
Lymphoproliferative Syndrome 3	Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med...	OMIM:612783
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B-cell lymphoma, B lymp...	OMIM:616005
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc...	ORPHA:2137
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Primary Membranoproliferative Glomerulonephritis	Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit...	ORPHA:54370
Tumor Predisposition Syndrome 1	Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu...	OMIM:614327
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,...	ORPHA:567544
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T...	OMIM:304790
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem...	OMIM:619632
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Glomerulopathy, Lymphocytosis, Microscopic hem...	ORPHA:79087
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt...	OMIM:233650
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ...	OMIM:614699
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Pleuritis, Arthritis, Malar rash, Pericarditis, Nephritis, ...	OMIM:152700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Lymphopenia, Respiratory tr...	ORPHA:444463
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o...	OMIM:618944
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G...	OMIM:619858
Fanconi Renotubular Syndrome 5	Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f...	OMIM:618913
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ...	ORPHA:859
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Immunodeficiency 50	Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ...	OMIM:300988
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c...	ORPHA:331206
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE l...	OMIM:602450
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase...	OMIM:617388
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient...	OMIM:619707
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis...	OMIM:243700
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina...	OMIM:619644
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ...	ORPHA:90280
Idiopathic Pulmonary Hemosiderosis	Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Reticular pattern o...	ORPHA:99931
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a...	OMIM:618394
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Decreased circulating complement factor I concentration, Decrease...	ORPHA:2134
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Simple Cryoglobulinemia	Pericarditis, Abnormality of the kidney, Chronic lymphatic leukemia, Monoclonal elevation of circ...	ORPHA:91139
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Lymphocytoma cutis, Pericardit...	ORPHA:449395
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi...	OMIM:613179
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Increased circula...	OMIM:615934
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I...	ORPHA:83313
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Squamous cell carcinoma, Squamous cell carcinoma of the vulva, B lymphocyto...	ORPHA:217390
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	OMIM:616100
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl...	OMIM:618969
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Abnormal circulating IgG level, Lymp...	OMIM:616636
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, In...	OMIM:619281
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Lipodystrophy, Partial, Acquired, Susceptibility To	Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me...	OMIM:608709
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias...	OMIM:615816
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Lymphoma, Leukocytosis, Increased ci...	ORPHA:37748
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased ...	OMIM:613101
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N...	ORPHA:37042
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp...	OMIM:620210
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo...	OMIM:615861
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Osteomyelitis, Recurrent upp...	OMIM:608184
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Abnormality of neuronal migration, Hypoplastic spleen, 4-layered lissencephaly	ORPHA:89844
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Hypereosinophilia, Reduced...	ORPHA:449400
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Inc...	ORPHA:400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Preeclampsia/Eclampsia 1	Thrombocytopenia, Elevated circulating hepatic transaminase concentration, Proteinuria	OMIM:189800
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly	ORPHA:100025
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:301078
Whim Syndrome 1	Decreased circulating antibody level, Verrucae, Decreased circulating IgG level, Recurrent upper ...	OMIM:193670
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Complement Component 4A Deficiency	Reduced circulating CH50 activity, Glomerulonephritis, Decreased circulating complement C4 concen...	OMIM:614380
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Pr...	OMIM:215250
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit...	ORPHA:169160
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R...	OMIM:105200
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me...	OMIM:613913
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon...	OMIM:618999
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Ne...	OMIM:226990
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Anemia, Neoplasm	ORPHA:166113
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Mediastinal lymphadenopathy, Mali...	ORPHA:2302
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi...	OMIM:300755
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Arthritis, Crescentic glomerulonephritis, Hemosiderin...	OMIM:616414
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia,...	OMIM:615122
Diffuse Alveolar Hemorrhage	Decreased circulating complement C3 concentration, Anemia, Hematuria, Antiphospholipid antibody p...	ORPHA:90060
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,...	OMIM:619652
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Tempi Syndrome	Abnormality of the kidney, Abnormality of the pulmonary vasculature, Transudative pleural effusio...	ORPHA:284227
Pediatric Systemic Lupus Erythematosus	Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle...	ORPHA:93552
Immunodeficiency 84	B-cell lymphoma, B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, Splenomegaly, Reduced ...	ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Increased circulating interleukin 6 concentration, Elev...	OMIM:614034
Immunodeficiency 11A	Recurrent respiratory infections, Decreased circulating antibody level, Reduced antigen-specific ...	OMIM:615206
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c...	ORPHA:275
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation...	ORPHA:911
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti...	OMIM:619774
Brucellosis	Bronchitis, Granuloma, Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Anterior uveit...	ORPHA:1304
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Biliary ci...	ORPHA:289390
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circulating ant...	ORPHA:3392
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau...	OMIM:620376
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Erythema ...	OMIM:615214
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition...	ORPHA:331235
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust...	ORPHA:69126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Lysinuric Protein Intolerance	Argininuria, Elevated circulating hepatic transaminase concentration, Increased circulating antib...	ORPHA:470
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch...	ORPHA:562639
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Recurrent lower respiratory tract infections, Increased circulating IgE level, Mega...	OMIM:620603
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Refractory anemia with ringed sideroblasts, Bone marr...	ORPHA:318
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di...	OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG...	OMIM:102700
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Inflammatory abnormality of ...	ORPHA:36412
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Focal Segmental Glomerulosclerosis 1	Anemia, Pleural effusion, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Pr...	OMIM:603278
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre...	OMIM:614069
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio...	ORPHA:656
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Circulating immune compl...	ORPHA:2035
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Increased circulating antibody level, Cholangitis, Lympha...	ORPHA:449432
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:301006
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul...	OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recur...	OMIM:619752
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased...	ORPHA:507
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple...	OMIM:618042
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ...	OMIM:618108
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Lymphadenopathy, Pancreatitis, Renal insufficiency, Recurrent p...	ORPHA:549
Systemic Lupus Erythematosus	Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lymphadenopathy, Anti-U1...	ORPHA:536
Pauci-Immune Glomerulonephritis	Acute kidney injury, Abnormality of the pulmonary vasculature, Scleritis, Pancreatitis, Decreased...	ORPHA:93126
Insulin Autoimmune Syndrome	Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste...	ORPHA:411593
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 22	Chronic oral candidiasis, Decreased circulating total IgM, Anemia, Decreased circulating IgE, Rec...	OMIM:615758
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	B-cell lymphoma, Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of...	OMIM:620532
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp...	ORPHA:3162
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:161900
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnormality of the...	ORPHA:29073
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Prolidase Deficiency	Systemic lupus erythematosus, Hepatomegaly, Anemia, Increased circulating antibody level, Eczemat...	OMIM:170100
Insulin-Resistance Syndrome Type B	Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgG lev...	ORPHA:2298
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti...	OMIM:601457
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ...	OMIM:613092
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Felty Syndrome	Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Neutrop...	ORPHA:47612
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopat...	ORPHA:829
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency	ORPHA:375
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Gracile Bone Dysplasia	Hypoplastic spleen, Asplenia	OMIM:602361
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Emphysema, Pyoderma, Lymphopenia, Recurrent bronchopulmonary in...	OMIM:242700
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,...	OMIM:260920
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil...	OMIM:178500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad...	ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Circulating immune complexe...	ORPHA:91138
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Postinfectious Vasculitis	Gastrointestinal inflammation, Pneumonia, Hematuria, Increased circulating antibody level, Bacter...	ORPHA:48435
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Nephrolithiasis, Non-small cell lung carcinoma, Desmo...	ORPHA:137605
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In...	OMIM:618213
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti...	OMIM:615573
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Acne, Leukocytosis, Synovitis, Micro...	ORPHA:77297
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Psoriasiform...	ORPHA:49041
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Skin rash, Gastrointestinal stroma tumor...	ORPHA:221
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni...	OMIM:614376
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, Sclerosing cholangitis, Skin rash, T lymphocytopenia, Sinusitis, Decrea...	ORPHA:572
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Mirage Syndrome	Anemia, Decreased testicular size, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia,...	OMIM:617053
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:618963
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve...	ORPHA:2643
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig...	ORPHA:2571
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Adrenocortical Carcinoma	Abnormality of urine homeostasis, Increased urinary cortisol level, Lung adenocarcinoma, Adrenoco...	ORPHA:1501
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer...	ORPHA:90003
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Pulmona...	OMIM:603585
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Reticulocytosis, Thrombocytopenia, Proteinuria, Microangiopathic ...	ORPHA:54057
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Pulmonary edema, Elevated circulating hepatic tra...	ORPHA:275555
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia	OMIM:245900
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym...	ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased...	OMIM:617591
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Skin rash, L...	ORPHA:2584
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis	OMIM:619428
Myh9-Related Disease	Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate...	ORPHA:182050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Agammaglobulinemia, Cryptorchidism, Abnormal B cell morphology	OMIM:616910
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu...	ORPHA:2902
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp...	OMIM:611555
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly, Recurrent respiratory infec...	ORPHA:834
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,...	ORPHA:39041
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall...	ORPHA:30
Macrophage Activation Syndrome	Decreased liver function, Systemic lupus erythematosus, Hepatomegaly, Anemia, Lymphadenopathy, He...	ORPHA:158061
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve...	OMIM:618282
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:600995
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum...	ORPHA:36234
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Megaloblastic anemia, Proteinuria	OMIM:261100
Reni Syndrome	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse...	OMIM:617575
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc...	ORPHA:2688
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus e...	ORPHA:90033
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ...	OMIM:616050
Immunodeficiency 9	Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ...	OMIM:612782
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-ma...	OMIM:607616
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulatin...	OMIM:617099
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the kidne...	ORPHA:228123
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep...	OMIM:104200
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Leukemia, Recurrent bronchitis, Lymphoma, Hypoplasi...	OMIM:208900
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Elevated circulating hepatic transaminase co...	ORPHA:540
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Glycosuria,...	OMIM:614817
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, ...	ORPHA:449563
Gaucher Disease Type 1	Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pancytopenia, Splenic in...	ORPHA:77259
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Ne...	ORPHA:391
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio...	OMIM:615518
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic...	ORPHA:369
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti...	OMIM:615607
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Systemic Sclerosis	Anti-RNA-polymerase-III-autoantibody positivity, Abnormality of the kidney, Acute kidney injury, ...	ORPHA:90291
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ...	ORPHA:449427
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Decreased circulating IgG2 level	OMIM:300076
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node ...	ORPHA:85450
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Multiple myeloma, Rheumatoid arthritis, Pustule, Systemic l...	ORPHA:48377
Myeloma, Multiple	Multiple myeloma, Paraproteinemia	OMIM:254500
Bloom Syndrome	Cheilitis, Bronchitis, Neoplasm of the skin, Skin rash, Malignant genitourinary tract tumor, Neop...	ORPHA:125
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Oste...	OMIM:614172
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephrotic syndrome, Anemia, Proteinuria, Nephropathy	ORPHA:1192
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pleural effusion, Ascites, Focal segmental glomerulosclerosis,...	ORPHA:567546
Hemorrhagic Fever-Renal Syndrome	Acute kidney injury, Pneumonia, Pulmonary edema, Anemia, Elevated circulating hepatic transaminas...	ORPHA:340
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec...	ORPHA:169105
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce...	ORPHA:381
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia	ORPHA:858
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Anemia, Reticular pattern on pulmonary HRC...	OMIM:233450
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf...	OMIM:301000
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Proteinuria, Renal insufficiency	ORPHA:2668
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Anemia, Hemoly...	OMIM:612925
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent viral upper respiratory tract infections, Anti-thyroglobulin an...	OMIM:615577
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E...	OMIM:614878
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614455
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreas...	OMIM:242860
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ...	OMIM:615010
Immunodeficiency 35	Increased circulating IgE level, Recurrent respiratory infections	OMIM:611521
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Transcobalamin Ii Deficiency	Methylmalonic aciduria, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen...	OMIM:275350
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Anemia, Hemoly...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Anemia, Hemoly...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Anemia, Hemoly...	OMIM:612926
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA a...	ORPHA:1855
Aspergillosis	Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE lev...	ORPHA:1163
Babesiosis	Hepatomegaly, Jaundice, Recurrent pharyngitis, Leukopenia, Splenomegaly, Thrombocytopenia, Renal ...	ORPHA:108
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Enterocoliti...	OMIM:301108
Iga Pemphigus	Neutrophilic infiltration of the skin, Increased circulating IgA level, Monoclonal elevation of c...	ORPHA:555905
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA lev...	ORPHA:79078
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anti-smooth muscle antibody positivity, Elevated ...	ORPHA:64743
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hematuria, Increased c...	ORPHA:319251
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Recurrent urinary tract infectio...	ORPHA:83471
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:610725
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Keratoconjunctiviti...	ORPHA:227990
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Diffuse alveolar hemorrhage, Cholecystitis, ...	ORPHA:99827
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Lymphadenopathy, Chronic lymphatic leuke...	ORPHA:98849
Frasier Syndrome	Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Nephrotic syndrome, Proteinuria, Stag...	OMIM:136680
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly...	ORPHA:85414
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec...	ORPHA:91500
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Alport Syndrome 1, X-Linked	Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Thr...	OMIM:301050
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Pleural...	ORPHA:457077
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ...	ORPHA:77261
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Panniculitis, Pancytope...	OMIM:618398
Netherton Syndrome	Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I...	OMIM:256500
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232220
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re...	ORPHA:183
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Neoplasm	ORPHA:172
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Chilblains, Pericarditis, Left ...	OMIM:619487
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentrat...	OMIM:610377
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Increased circulating I...	ORPHA:505248
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ...	OMIM:615688
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuria, Leukopenia, Thrombocytop...	OMIM:301110
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Hyperechogenic ...	OMIM:613845
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par...	ORPHA:439232
Immunodeficiency 47	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:300972
Immunodeficiency 82 With Systemic Inflammation	Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating to...	OMIM:619381
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Nephr...	ORPHA:85445
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Increased circulating IgE level	OMIM:270300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Anti-smooth muscle antibody positivity, Hematuria, Recurrent respir...	ORPHA:1018
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Familial Mediterranean Fever, Autosomal Dominant	Pleuritis, Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating alan...	OMIM:300555
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ...	ORPHA:699
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Keratoconjunctiviti...	ORPHA:227982
Glycogen Storage Disease Ic	Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Stomatitis, ...	OMIM:232240
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen, Cryptorchidism	OMIM:601186
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Rectal absces...	OMIM:601495
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid...	ORPHA:64744
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy...	OMIM:619155
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di...	ORPHA:650
Denys-Drash Syndrome	Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria	ORPHA:220
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys...	ORPHA:71505
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612924
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul...	OMIM:619693
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Pancytopenia, Recurrent myoglobinuria, Focal segmental glomeruloscl...	OMIM:607426
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Re...	OMIM:256040
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran...	OMIM:137940
Macrocephaly/Autism Syndrome	Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop...	OMIM:605309
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Autoi...	ORPHA:1183
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic anemia, Recurrent respirat...	ORPHA:90035
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis, Ascites, Nephrotic ...	ORPHA:342
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Anemia, Squamous cell carcinoma of the skin, Melanoma, Decreased circulatin...	OMIM:620040
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r...	OMIM:308940
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Renal Hypoplasia, Bilateral	Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re...	ORPHA:97362
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal...	OMIM:257200
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Renal tubular dysfunction, Hyperphosphaturia, Gly...	ORPHA:436271
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Imerslund-Grasbeck Syndrome 2	Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc...	OMIM:618882
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ...	ORPHA:221139
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent urinary tract ...	OMIM:307200
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent bronchiolitis, Increased circulating IgE level, Recurrent pneumonia, Pustule	OMIM:616069
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Elevated circulating hepatic tr...	OMIM:614576
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo...	OMIM:300653
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic...	OMIM:615415
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:809
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu...	OMIM:615244
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Increased circulating antibody le...	ORPHA:284
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom...	OMIM:613313
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat...	ORPHA:297
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233710
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El...	ORPHA:276621
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Erysi...	OMIM:214900
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Increased ...	OMIM:181000
Orotic Aciduria	Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Skin rash, Dysuria, Urinary hesitancy, Urin...	ORPHA:556
Netherton Syndrome	Emphysema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level,...	ORPHA:634
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen...	ORPHA:319218
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j...	OMIM:274150
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytosis, Proximal t...	OMIM:212065
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Pleural effusion, Lymphoma, Cryoglobulinemia, S...	ORPHA:33226
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, P...	OMIM:608233
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Anemia, Iron deficiency anemia, Squamous cell carcinoma, Abnormali...	ORPHA:79408
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Anemia, Hyperphosphaturia, Glycosuria, Renal Fanconi synd...	OMIM:220110
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233690
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Recurrent otitis m...	OMIM:619525
Lymphedema-Distichiasis Syndrome	Fibrosarcoma, Glomerulopathy, Abnormality of the pulmonary vasculature, Recurrent urinary tract i...	ORPHA:33001
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Pn...	ORPHA:169090
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphadenopathy,...	OMIM:603553
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Decreased eosinophil count, Pheochromocytoma, Pulmonary carcinoid tumor,...	ORPHA:99889
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Neoplasm of the skin, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Pleural effusion, Focal segmental glomeruloscle...	OMIM:254900
Poems Syndrome	Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Visceromegaly, Ascites, Pleu...	ORPHA:2905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Leukocytos...	OMIM:618278
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas...	OMIM:612301
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrena...	ORPHA:29072
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level...	ORPHA:186
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Atelectasis, Increased circulating IgE level, Skin rash, Lymphoma, Eczemato...	ORPHA:2314
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Reticulocytosis, Gout, Reduc...	OMIM:232800
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ...	OMIM:256300
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Atelectasis, Rectal abscess, Discoid lupus rash, Pl...	OMIM:306400
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Autoimmunit...	OMIM:613385
Meige Disease	Pleural effusion, Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infe...	ORPHA:90186
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency...	OMIM:269200
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Reticulocytosis, Decreased hemoglobin concentration, Renal insufficiency, Hemolyti...	ORPHA:713
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Lymphoma, Abnormality of complement sy...	ORPHA:79086
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Nephroti...	ORPHA:575
Mogs-Cdg	Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG le...	ORPHA:79330
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Bloom Syndrome	Squamous cell carcinoma, Malar rash, Lymphoma, Decreased circulating IgG level, Elevated hemoglob...	OMIM:210900
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e...	OMIM:619609
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc...	ORPHA:448237
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Renal insufficiency, P...	ORPHA:330001
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con...	ORPHA:264580
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A...	ORPHA:2133
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen...	ORPHA:355
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Skin rash, Abnormality of the hepat...	ORPHA:247691
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria	ORPHA:839
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Lymphopenia, Thyroiditis, Renal artery stenosis, Renovascu...	ORPHA:391487
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating total IgM, B-cell lymphoma, Decreased circulating antibody level...	ORPHA:90363
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:618985
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Perinuclear antineutro...	OMIM:617718
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu...	OMIM:616026
Cocaine Intoxication	Pneumothorax, Acute kidney injury, Pulmonary edema, Hematuria, Colitis, Proteinuria, Diffuse alve...	ORPHA:90068
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Fanconi-Bickel Syndrome	Hepatomegaly, Intrahepatic cholestasis, Generalized aminoaciduria, Renal tubular dysfunction, Hyp...	OMIM:227810
Vici Syndrome	Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocytopenia, Left ventricular hypertro...	OMIM:242840
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Abdominal situs inversus, Asplenia	OMIM:619123
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, ...	OMIM:608203
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Hypospadias, Partial absence of specific...	ORPHA:79324
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Panhypogammaglobulinemia, Polycystic kidney dysplasia, Hypopl...	ORPHA:84064
Granulomatosis With Polyangiitis	Chronic otitis media, Inflammatory abnormality of the eye, Skin rash, Ureteral stenosis, Sinusiti...	ORPHA:900
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism	ORPHA:99812
Hellp Syndrome	Acute kidney injury, Pulmonary edema, Elevated circulating hepatic transaminase concentration, De...	ORPHA:244242
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen, Portal hyperte...	OMIM:620005
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Heterotaxy, Visceral, 2, Autosomal	Polysplenia, Abdominal situs inversus, Asplenia	OMIM:605376
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Thrombocytopenia, Decreased mean ...	ORPHA:160
Lead Poisoning	Abnormal T cell morphology, Anemia, Increased circulating IgE level, Skin rash, Abnormality of hu...	ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Capillary hemangioma, Increased circu...	ORPHA:508533
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Microcytic anemia, Ketonuria, Neutropenia	OMIM:251900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Primary Ciliary Dyskinesia	Abnormal sperm motility, Polysplenia, Asplenia	ORPHA:244
Cystinosis	Nephropathy, Portal hypertension, Proteinuria, Renal insufficiency, Aminoaciduria, Renal tubular ...	ORPHA:213
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi...	OMIM:277400
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Cryoglobulinemia, Familial Mixed	Hematuria, Cryoglobulinemia, Abnormal renal physiology, Proteinuria, Chronic kidney disease	OMIM:123550
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati...	ORPHA:848
Vici Syndrome	Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Recurrent respiratory ...	ORPHA:1493
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici...	OMIM:612714
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232200
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria	OMIM:615605
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Bronchitis, Enuresis noc...	ORPHA:420741
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf...	OMIM:615846
Lambert-Eaton Myasthenic Syndrome	Calcium channel antibody positivity, Small cell lung carcinoma, Keratoconjunctivitis sicca	ORPHA:43393
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	ORPHA:263455
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Fabry Disease	Urinary mulberry cells, Anemia, Proteinuria, Lipiduria, Left ventricular hypertrophy, Renal insuf...	OMIM:301500
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Nephrotic sy...	OMIM:249100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Inflammatory abnormality of the eye, Ec...	ORPHA:379
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, V...	OMIM:615895
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Nephro...	ORPHA:79259
Kawasaki Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Jaundice, Cheilitis, Recurrent pharyngit...	ORPHA:2331
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Ddost-Cdg	Hepatic steatosis, Nephrotic range proteinuria, Elevated circulating hepatic transaminase concent...	ORPHA:300536
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Hemolytic anemia, Acute kidney injury	ORPHA:57
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Right Atrial Isomerism	Abdominal situs ambiguus, Polysplenia, Asplenia	OMIM:208530
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis, Asplenia	OMIM:240300
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundi...	OMIM:619377
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepat...	ORPHA:50918
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Chylothorax, Decreased circulating antibody level, Ascites, Erys...	ORPHA:2136
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho...	OMIM:618223
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Anemia, Myoglobinuria	OMIM:255125
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Pneumonia, Pancreatitis, Increased circulating interleukin 6 co...	ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Jaundice, Anemia, Pancytopenia, Hemosiderinuria, Abnormal erythrocyte enzyme...	ORPHA:447
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosplenomegaly, Urachus...	OMIM:612541
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Acute colitis, Anuria, Leukocytosis, Dysfunctional alternative...	ORPHA:90038
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Agel Amyloidosis	Abnormal spleen morphology, Respiratory tract infection, Proteinuria, Stage 5 chronic kidney dise...	ORPHA:85448
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Abnormal...	ORPHA:158048
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Blepharitis, Increased circulating IgE level, Pustule	OMIM:614328
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Autoimmunity	ORPHA:33577
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma,...	OMIM:230800
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Hepatomegaly, Hematuria, Generalized aminoaciduria, M...	OMIM:219800
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating hepatic transaminase concentration, Multiple glom...	OMIM:137920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Pheochromocytoma	Pheochromocytoma, Renal artery stenosis, Elevated urinary norepinephrine level, Hemangioma, Prote...	OMIM:171300
Urban-Rogers-Meyer Syndrome	Abnormality of the ureter, Increased circulating IgE level, Hypoplasia of penis	ORPHA:3409
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Myoglobinuria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis	OMIM:231530
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Elevated circulating hepatic...	OMIM:276700
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Recurrent respiratory infections, Pancreatic cysts, Renal cyst, Bile duct proliferation...	OMIM:208500
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abs...	OMIM:612852
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:284426
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Necroti...	OMIM:201475
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit...	OMIM:248250
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Bilateral renal agenesis, Pulmonary hypoplasia, Proteinuria	OMIM:191830
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis...	OMIM:210250
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminase concentratio...	ORPHA:94093
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u...	ORPHA:228305
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300554
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency	ORPHA:86818
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane...	OMIM:146255
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Chronic...	ORPHA:368
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Gitelman Syndrome	Neoplasm of the pancreas, Urinary incontinence, Iron deficiency anemia, Renal tubular acidosis, R...	ORPHA:358
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko...	ORPHA:167
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R...	OMIM:224120
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Mild proteinuria, Anemia, Renal insufficiency	OMIM:619147
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Impaired T cell function	OMIM:201100
Lassa Fever	Oliguria, Increased circulating IgM level, Jaundice, Conjunctivitis	ORPHA:99824
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tr...	OMIM:607143
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu...	ORPHA:488627
Reynolds Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anti-centromere ...	OMIM:613471
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Scleromyxedema	Abnormality of the kidney, Multiple myeloma, Paraproteinemia, Abnormal lung morphology, Abnormal ...	ORPHA:167635
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Prolonged neonatal jaundice, Congenital posterior ure...	ORPHA:821
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Elevated circulating hepatic transaminase concentration	ORPHA:98895
Cockayne Syndrome Type 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Proteinuria, Conju...	ORPHA:90321
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Scheie Syndrome	Mucopolysacchariduria, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93474
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Oroticaciduria, Pancreatitis, Intraalveolar phospholipid ...	OMIM:222700
Relapsing Polychondritis	Myocarditis, Glomerulopathy, Hematuria, Atelectasis, Recurrent aphthous stomatitis, Renal insuffi...	ORPHA:728
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Elevated circulating hepatic transaminase concentration, Proteinuria, Micronodular cir...	OMIM:192315
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:99845
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin...	OMIM:251880
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Asplenia	OMIM:617746
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema...	ORPHA:411634
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum,...	ORPHA:797
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Decreased circulating antibody leve...	OMIM:222470
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Lymphoma, Eczematoid dermatitis, Neuroblastoma, Decreased circulati...	OMIM:223370
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria	OMIM:239200
Encephalitis Lethargica	Autoimmunity, Urinary incontinence, Increased circulating antibody level	ORPHA:83600
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Renal Nutcracker Syndrome	Hematuria, Anemia, Renal artery stenosis, Microscopic hematuria, Proteinuria	ORPHA:71273
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit...	ORPHA:131
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Trichothiodystrophy 1, Photosensitive	Basal cell carcinoma, Squamous cell carcinoma, Decreased circulating IgG level, Erythroderma, Ker...	OMIM:601675
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Carney Triad	Lymphadenopathy, Pheochromocytoma, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat...	ORPHA:3132
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Neoplasm of the skin, Nephrocalcinosis, Multiple renal cysts, Ne...	ORPHA:534
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Myositis, Arthritis, Skin rash, Leukocytosis, ...	ORPHA:32960
Marburg Hemorrhagic Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased cir...	ORPHA:99826
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Squamous cell carcinoma, Purple urine, Neoplasm of the skin, R...	ORPHA:79277
Martin-Probst Syndrome	Pancytopenia, Chordee, Proteinuria, Micropenis, Renal insufficiency	OMIM:300519
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Cornelia De Lange Syndrome 1	Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Duplica...	OMIM:122470
Mosaic Trisomy 9	Cryptorchidism, Abnormal liver lobulation, Asplenia	ORPHA:99776
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Decreased liver function, Myoglobinuria	OMIM:602199
Ohdo Syndrome	Proteinuria	OMIM:249620
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chron...	OMIM:617729
Wagro Syndrome	Nephroblastoma, Proteinuria, Multiple exostoses	OMIM:612469
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concent...	OMIM:619685
Fabry Disease	Abnormal renal tubule morphology, Glomerulopathy, Anemia, Hematuria, Emphysema, Arthritis, Nephro...	ORPHA:324
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Familial Tumoral Calcinosis	Hepatomegaly, Neoplasm of the skin, Skin rash, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of peni...	ORPHA:373
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria, Elevated circulating alanine aminotransferase concentrati...	OMIM:620300
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co...	OMIM:214100
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Yellow Fever	Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Anuria, Skin ra...	ORPHA:99829
Melas	Anemia, Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreat...	ORPHA:550
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen...	ORPHA:2614
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ...	OMIM:602782
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Emphysema, Exostosis of the external auditory canal, Inc...	OMIM:619472
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Nk-Cell Enteropathy	Lymphoproliferative disorder, Increased T cell count, Intestinal polyp	ORPHA:263665
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Galloway-Mowat Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria	ORPHA:2065
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Proteinuria, Nephropathy	OMIM:209010
Immunoglobulin A Vasculitis	Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Orchitis, Re...	ORPHA:761
Xfe Progeroid Syndrome	Ascites, Elevated circulating hepatic transaminase concentration, Proteinuria, Renal insufficiency	OMIM:610965
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level, Eosinophilic infiltration of t...	OMIM:615508
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Thr...	ORPHA:333
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi...	ORPHA:47159
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Mitochondrial Trifunctional Protein Deficiency 1	Cholestasis, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Elevated cir...	OMIM:609015
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:251300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly, Lipoma	OMIM:612918
Japanese Encephalitis	Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi...	ORPHA:79139
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating hepatic transaminase concentration	OMIM:620138
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Myoglobinuria, He...	ORPHA:71212
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Holoprosencephaly	Spinal cord tumor, Hypoplasia of penis, Proteinuria, Abnormality of the spleen, Abnormality of th...	ORPHA:2162
H Syndrome	Lymphadenopathy, Decreased testicular size, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Beckwith-Wiedemann Syndrome	Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Large intestinal polyposis, Splenomegaly...	ORPHA:116
Meckel Syndrome	Accessory spleen, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver disease, Pa...	ORPHA:564
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Proteinuria, Recurrent otitis media	ORPHA:2728
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Orofaciodigital Syndrome Type 1	Chronic otitis media, Elevated circulating hepatic transaminase concentration, Renal insufficienc...	ORPHA:2750
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Splenomegaly, Proteinuria, Micropenis	OMIM:216400
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Recurrent cystitis...	ORPHA:64
Cockayne Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis,...	ORPHA:191
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Increased circulating IgE level, Pleural empyema, Skin rash, Chronic mu...	OMIM:147060
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Hypothalamic hamartoma, Proteinuria, Hepatic cysts, Hepatic fibrosis...	OMIM:311200
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis	OMIM:133540
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Ch...	ORPHA:77293
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Abnormal...	ORPHA:411629
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Conjunctivitis...	OMIM:263700
Tetraamelia Syndrome 1	Adrenal gland agenesis, Asplenia	OMIM:273395
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:619127
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Elevated circulating hepatic transaminase concentration, Ketonuria	OMIM:616878
Blau Syndrome	Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Posterior uveitis, Synovitis, Pericarditis,...	ORPHA:90340
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus	OMIM:306955
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs ambiguus, Abdominal situs inversus, Asplenia	OMIM:270100
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Cryptorchidism, Malformation o...	OMIM:249000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Focal segmental...	OMIM:614748
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Proteinuria, Micropenis	OMIM:619471
Pseudoaminopterin Syndrome	Cryptorchidism, Asplenia	ORPHA:221120
Digeorge Syndrome	Recurrent otitis media, Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, A...	OMIM:188400
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Elevated c...	ORPHA:95455
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Abnormality of the upper urinary tract, Glycosuria, Reduced pancreatic bet...	ORPHA:99885
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral steno...	ORPHA:904
Cysticercosis	Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo...	ORPHA:1560
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Pulmonary lymphangiectasia, Asplenia	OMIM:265380
Pierson Syndrome	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kidneys, Stage 5 chr...	OMIM:609049
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute hepatic failure, Acute kidney injury	ORPHA:423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Trichinellosis	Conjunctivitis, Increased circulating IgE level, Skin rash	ORPHA:863
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin...	ORPHA:90041
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Prox...	OMIM:309000
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis	ORPHA:509
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Jaundice, Elevated circulating hepatic transaminase concentrati...	OMIM:614231
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral renal agenesis, Secretory IgA deficiency, Decreased circulating IgG level, ...	ORPHA:500150
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Periodontitis, Moderate albuminuria	OMIM:619269
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Elevated circulating hepa...	ORPHA:79318
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Decreased circulating antibody level, Cryptorchidism, Asplenia, Periventricular h...	ORPHA:261537
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Mowat-Wilson Syndrome	Polymicrogyria, Decreased circulating antibody level, Cryptorchidism, Asplenia, Periventricular h...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Decreased circulating antibody level, Cryptorchidism, Asplenia, Periventricular h...	ORPHA:261552

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 Rassf5

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 Rassf5.

No publications found that use IMPC mice or data for Rassf5.

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
Rassf5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Rassf5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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