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Gene: Ptprc MGI:97810

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

protein tyrosine phosphatase receptor type C

Synonyms:

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptprc mutations

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

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

Human diseases associated with Ptprc (1 diseases)
Human diseases predicted to be associated with Ptprc (2050 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 105		Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924

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

Disease	Matching phenotypes	Source
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection...	OMIM:614493
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle ant...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c...	OMIM:601859
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
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
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt...	OMIM:233650
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
Lactose Intolerance, Adult Type	Diarrhea, Abdominal pain, Lactose intolerance, Flatulence	OMIM:223100
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Th...	OMIM:615285
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal...	OMIM:618982
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to...	OMIM:613496
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
Immunodeficiency 48	Recurrent candida infections, Impaired lymphocyte transformation with phytohemagglutinin, Panhypo...	OMIM:269840
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Lymphadenopathy, Complete or ...	OMIM:607271
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 112	Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea...	OMIM:620449
Immunodeficiency 8 With Lymphoproliferation	Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C...	OMIM:615401
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antibody...	OMIM:619375
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Recurrent in...	OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Neutrophilic infiltration of the skin, B lymphocytopenia, Skin rash, Increased c...	OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Systemic Lupus Erythematosus 16	Decreased circulating complement C3 concentration, Lupus nephritis, Anti-dsDNA antibody positivit...	OMIM:614420
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Immunodeficiency 50	Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ...	OMIM:300988
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med...	OMIM:612783
Immunodeficiency 25	Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le...	OMIM:610163
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
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 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Diarrhea, Rec...	OMIM:618495
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Complement Component 8 Deficiency, Type I	Decreased circulating complement C8 concentration, Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 11A	Decreased circulating antibody level, Agammaglobulinemia, Reduced antigen-specific T cell prolife...	OMIM:615206
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I...	OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit...	ORPHA:169160
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Complement Component 3 Deficiency, Autosomal Recessive	Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec...	OMIM:613779
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 27A	Anemia, Lymphadenopathy, Diarrhea, Increased circulating IgG level, Salmonella osteomyelitis, Leu...	OMIM:209950
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo...	OMIM:240500
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Chronic diarrhea, Decreased FOXP3-expressing T cell count, Arthritis, In...	OMIM:304790
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Increased circulating antibody le...	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
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, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Decreased circulating total IgM, Absent peripheral lymph nodes in presenc...	ORPHA:98813
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Decreased c...	OMIM:613652
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria...	ORPHA:514
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia...	OMIM:614470
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit...	ORPHA:329918
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho...	ORPHA:397596
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti...	OMIM:601457
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Primary Membranoproliferative Glomerulonephritis	Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit...	ORPHA:54370
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Antiphospholipid antibody positivity, Malar rash, Myositis, Skin rash, Increased circulat...	OMIM:615934
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,...	ORPHA:90283
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys...	OMIM:613101
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti...	OMIM:615607
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
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, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ...	OMIM:614699
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell receptor exc...	OMIM:602450
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase...	OMIM:617388
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr...	OMIM:612692
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Chronic diarrhea, Skin rash, Arthritis, Incr...	OMIM:260920
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr...	OMIM:619858
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Decreased circulating complement factor I concentration, Decrease...	ORPHA:2134
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Ascite...	ORPHA:2137
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
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Decreased circulating antibody level, Decreased circulating Ig...	ORPHA:859
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, B lymphocytopenia, Increased circulating IgE level, Recurrent bacte...	ORPHA:217390
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Chronic diarrhea, B lymphocytopenia, Increased p...	OMIM:619824
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased...	OMIM:620565
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,...	ORPHA:567544
Sucrase-Isomaltase Deficiency, Congenital	Diarrhea, Abdominal pain, Malabsorption	OMIM:222900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 37	Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T cells, In...	OMIM:616098
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Diarrhea, Chronic di...	OMIM:617099
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocyto...	OMIM:152700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Angioedema, Hereditary, 8	Diarrhea, Abdominal pain, Episodic vomiting	OMIM:619367
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf...	OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Eosinophilia, Colonic eosinophilia...	OMIM:617638
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,...	OMIM:619652
Diarrhea 6	Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism	OMIM:614616
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Glomerulopathy, Lymphocytosis, Microscopic hem...	ORPHA:79087
Boutonneuse Fever	Lymphadenopathy, Diarrhea, Increased circulating IgG level, Skin rash, Nausea, Increased circulat...	ORPHA:83313
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Chronic diarrhea, B lymphocytopenia, Increased proportion of transiti...	OMIM:616005
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Immunoglobulin A Deficiency 2	Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ...	OMIM:608184
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymp...	ORPHA:91139
Pouchitis	Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom...	ORPHA:217067
Immunodeficiency 91 And Hyperinflammation	Intermittent diarrhea, Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy...	OMIM:619644
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi...	OMIM:300755
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Diarrhea, Leuk...	ORPHA:90051
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Diarrhea, Leukocytosis, Pericarditis...	ORPHA:188
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat...	OMIM:619510
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Pediatric Systemic Lupus Erythematosus	Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle...	ORPHA:93552
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Panhypogammaglobulinemia...	ORPHA:572
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus, Abnormality of complement system	OMIM:613783
Complement Component C1R/C1S Deficiency	Autoimmunity, Nephritis, Reduced circulating complement concentration	OMIM:216950
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecys...	ORPHA:449395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Crohn's disease, Arthritis,...	OMIM:616100
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Ne...	OMIM:226990
Renal Hypoplasia, Bilateral	Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re...	ORPHA:97362
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Increased circulating I...	ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt...	ORPHA:37042
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, Anemia, Hemoly...	OMIM:612925
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Idiopathic Pulmonary Hemosiderosis	Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p...	ORPHA:99931
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre...	OMIM:614069
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Autosomal Agammaglobulinemia	Chronic otitis media, Recurrent respiratory infections, Arthritis, Skin rash, Sinusitis, Conjunct...	ORPHA:33110
Thymoma	Aplastic anemia, Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Dec...	ORPHA:99867
Masp2 Deficiency	Reduced circulating complement concentration, Systemic lupus erythematosus	OMIM:613791
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon...	OMIM:618999
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Bare Lymphocyte Syndrome, Type Ii	Neutropenia, Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections,...	OMIM:209920
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormality of th...	ORPHA:47
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia	OMIM:620400
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ...	ORPHA:555905
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
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Inflammatory Bowel Disease 11	Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine	OMIM:191390
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r...	ORPHA:35078
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr...	OMIM:301000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
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
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,...	OMIM:616433
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res...	OMIM:307200
Tularemia	Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly...	ORPHA:3392
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E...	OMIM:614878
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R...	OMIM:105200
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio...	ORPHA:83471
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Candidiasis, Familial, 1	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:114580
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Oliguria, Acute kidney...	ORPHA:340
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:193670
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pancreatitis, Hematuria, Diarrhea, Arthritis, Skin r...	ORPHA:727
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, CNS demyelination, A...	ORPHA:217260
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 23	Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev...	OMIM:615816
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreas...	OMIM:102700
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren...	OMIM:619774
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ...	ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Lipodystrophy, Partial, Acquired, Susceptibility To	Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me...	OMIM:608709
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:161900
Jessner Lymphocytic Infiltration Of The Skin	Abnormal lymphocyte morphology	ORPHA:33314
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Enterocolitis, Vomiting	OMIM:260005
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce...	ORPHA:381
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Lassa Fever	Jaundice, Diarrhea, Increased circulating IgM level, Dysphagia, Conjunctivitis, Oliguria	ORPHA:99824
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul...	OMIM:241600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocytopenia, Decrea...	OMIM:619705
Infection-Related Hemolytic Uremic Syndrome	Decreased urine output, Oliguria, Myocarditis, Acute kidney injury, Increased circulating interle...	ORPHA:544482
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Diffuse Alveolar Hemorrhage	Decreased circulating complement C3 concentration, Anemia, Hematuria, Antiphospholipid antibody p...	ORPHA:90060
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Abnormal...	ORPHA:400
Brucellosis	Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi...	ORPHA:1304
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot...	OMIM:612924
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Igg4-Related Aortitis	Intestinal obstruction, Increased circulating antibody level, Increased circulating IgE level, Re...	ORPHA:449400
Diarrhea 9	Diarrhea	OMIM:618168
Lujo Hemorrhagic Fever	Myocarditis, Diarrhea, Fulminant hepatitis, Skin rash, Leukocytosis, Vomiting, Nausea, Microscopi...	ORPHA:319213
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre...	OMIM:615207
Angiostrongyliasis	Projectile vomiting, Increased circulating IgG level, Increased circulating IgA level, Vomiting, ...	ORPHA:74
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Aspergillosis	Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc...	ORPHA:1163
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Systemic Lupus Erythematosus	Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lymphadenopathy, Anti-U1...	ORPHA:536
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption	ORPHA:103907
Lysinuric Protein Intolerance	Steatorrhea, Argininuria, Decreased glomerular filtration rate, Increased circulating antibody le...	ORPHA:470
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Increased circulating interleukin 6 concentration, Aspl...	OMIM:614034
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Complement Component 4A Deficiency	Reduced circulating CH50 activity, Glomerulonephritis, Decreased circulating complement C4 concen...	OMIM:614380
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo...	OMIM:615861
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry...	OMIM:614723
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Adult Idiopathic Neutropenia	Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia...	ORPHA:2688
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Cap Polyposis	Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia, Atrophic gastritis	ORPHA:160148
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant...	OMIM:618852
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Recu...	OMIM:301078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement C3 concentration, Acute kidney injury, Hemolytic-uremic syndrome...	OMIM:235400
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level, Antiphospholipid antibody ...	ORPHA:90280
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency	ORPHA:375
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent...	OMIM:616576
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Common Variable Immunodeficiency	Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Lymphad...	ORPHA:1572
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymph...	ORPHA:829
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Skin rash, Increased circulating IgA level, Biliary cirrhosis, E...	ORPHA:2298
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Lymph...	OMIM:619752
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Lactase Deficiency, Congenital	Diarrhea, Lactose intolerance	OMIM:223000
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu...	ORPHA:289390
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Recurrent aphthous stomatitis,...	ORPHA:343
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau...	OMIM:620376
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Ascites, Nephrotic syndrome, Nephropathy	OMIM:256150
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me...	OMIM:613913
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Circulating immune compl...	ORPHA:2035
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Inflammatory abnormality of the eye, Di...	ORPHA:36412
Rabies	Anorexia, Nausea and vomiting, Diarrhea	ORPHA:770
Dyskeratosis Congenita, Autosomal Recessive 8	B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Alopecia Areata 1	Autoimmunity	OMIM:104000
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphadenopathy, Bone marrow hypocell...	ORPHA:549
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte...	ORPHA:229717
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA lev...	ORPHA:79078
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc...	OMIM:243150
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Diarrhea, Reticulocytosis, Thrombocytopenia, Proteinuria, Microan...	ORPHA:54057
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Glomerulopathy...	ORPHA:91138
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level, Myositis, Crohn's disease, Arthritis, Pust...	ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Thyroiditis, Abnormal lymphocyte morphol...	ORPHA:39041
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circ...	OMIM:620210
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ...	OMIM:301081
Insulin Autoimmune Syndrome	Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu...	ORPHA:411593
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Autoimmunity, Abnormal urinary color, Hemo...	ORPHA:56425
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopath...	ORPHA:449432
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Rectal absces...	OMIM:601495
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Babesiosis	Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Renal insufficiency, Hemolyti...	ORPHA:108
Brunner Syndrome	Diarrhea	OMIM:300615
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Psoriasiform...	ORPHA:49041
Colchicine Poisoning	Myocarditis, Diarrhea, Leukocytosis, Vomiting, Nausea, Oliguria, Renal insufficiency	ORPHA:31824
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Eczematoid dermatitis, Hyperimidodipe...	OMIM:170100
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Focal Segmental Glomerulosclerosis 1	Anemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced...	OMIM:603278
Immunodeficiency 22	Chronic oral candidiasis, Decreased circulating total IgM, Anemia, Panniculitis, Decreased circul...	OMIM:615758
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Primary Biliary Cholangitis	Gastrointestinal inflammation, Steatorrhea, Jaundice, Cirrhosis, Hepatomegaly, Increased circulat...	ORPHA:186
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ...	OMIM:613092
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Arthritis, Dysphagia, Oliguria, Autoimmunity, Renal insufficiency, Xeros...	ORPHA:220393
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Vomiting, Splenomegaly, Aminoaciduria	OMIM:230350
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Pneumonia, Decreas...	OMIM:242860
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Myositis, Dark urin...	ORPHA:99845
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Leukopenia, Thrombocytopenia, Lymphopen...	ORPHA:319218
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Acute colitis, Diarrhea, Anuria, Bloody diarrhea, Leukocytosis...	ORPHA:90038
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Chronic diarrhea, Megaloblastic anemia, Increased circulating IgE level, Atopic der...	OMIM:620603
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubulo...	ORPHA:85450
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,...	OMIM:266600
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia	OMIM:245900
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple...	OMIM:618042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytop...	OMIM:617021
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Immunodeficiency 82 With Systemic Inflammation	Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating to...	OMIM:619381
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d...	OMIM:620045
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia	ORPHA:318
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia	OMIM:312500
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Neutropenia, Increased circulating IgA level, Lymphopenia	OMIM:616395
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Skin rash, Osteoporosis, Mastocytosis, Splenomegaly, Ab...	ORPHA:98848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Panhypogammaglob...	ORPHA:79124
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG...	ORPHA:275
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen...	OMIM:616871
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Acne, Leukocytosis, Synovitis, Micro...	ORPHA:77297
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Eosinophilopenia	Autoimmunity, Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased circulating total IgM, Sclerosing cholangitis, Increased circul...	OMIM:243700
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno...	OMIM:259710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti...	OMIM:615573
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Leukocy...	ORPHA:457077
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:301006
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morph...	OMIM:602114
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Postinfectious Vasculitis	Gastrointestinal inflammation, Hematuria, Increased circulating antibody level, Bacterial endocar...	ORPHA:48435
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte...	ORPHA:540
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy...	ORPHA:275555
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Anemia, Renal interstitial inflammation, Renal tubular atrophy...	OMIM:619113
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Diarrhea, Decreased mean corpuscular hemoglob...	ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Diarrhea, Reticulocy...	OMIM:275350
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Unclassified Myelodysplastic Syndrome	Autoimmunity, Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity	ORPHA:98827
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S...	OMIM:603552
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Congenital Syphilis	Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Diarrhea, Synovitis, Nephrotic syndrome, Prol...	ORPHA:499009
Pelizaeus-Merzbacher Disease	Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig...	OMIM:312080
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ...	ORPHA:656
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:606528
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve...	OMIM:618282
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Complement Component 4B Deficiency	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati...	ORPHA:848
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Focal segmental glomerul...	OMIM:617303
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, ...	ORPHA:47612
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:600995
Systemic Lupus Erythematosus 17	Decreased circulating complement C3 concentration, Myelitis, Malar rash, Optic neuritis, Anti-aqu...	OMIM:301080
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume...	ORPHA:182050
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cyst, Prolonged neo...	ORPHA:79303
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar...	ORPHA:93126
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Diarrhea, ...	ORPHA:231214
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Ataxia-Telangiectasia	Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Decreased circ...	OMIM:208900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia	OMIM:606996
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall...	ORPHA:30
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Solitary Rectal Ulcer Syndrome	Intermittent diarrhea, Abdominal pain, Bloody diarrhea, Episodic abdominal pain, Hematochezia, Ch...	ORPHA:209964
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Megaloblastic anemia, Proteinuria	OMIM:261100
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephr...	OMIM:616414
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,...	ORPHA:39812
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephrotic syndrome, Anemia, Proteinuria, Nephropathy	ORPHA:1192
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Nausea, Septic arthriti...	ORPHA:36234
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
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
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt...	ORPHA:100026
Avian Influenza	Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Pleural effusion...	ORPHA:454836
Malaria	Acute kidney injury, Thrombocytopenia, Anemia	ORPHA:673
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Lymphedema, Primary, With Myelodysplasia	Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Pancytopenia	OMIM:614038
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Di...	ORPHA:99829
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly, Distal renal tubular acidosis	OMIM:259730
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria	ORPHA:834
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Steatorrhea, Fat malabsorption	OMIM:613291
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Splenomeg...	OMIM:613385
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Proteinuria, Renal insufficiency	ORPHA:2668
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ...	ORPHA:723
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Chronic diarrhea, Abnormal platelet function, Sinusitis, Hemat...	ORPHA:906
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:51636
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re...	OMIM:615139
Complement Factor H Deficiency	Hematuria, Depletion of components of the alternative complement pathway, Glomerular subendotheli...	OMIM:609814
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc...	ORPHA:294
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo...	OMIM:300653
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Congenital Enterovirus Infection	Myocarditis, Neutropenia, Anemia, Abnormal macrophage morphology, Skin rash, Pleural effusion, Ch...	ORPHA:292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, Renal insufficie...	ORPHA:289916
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu...	OMIM:607765
Castleman Disease	Intestinal obstruction, Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria...	ORPHA:160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria	ORPHA:882
Thyrocerebrorenal Syndrome	Nephritis, Thrombocytopenia, Renal insufficiency	ORPHA:3327
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni...	OMIM:614376
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Chronic constipation, Glomeru...	OMIM:619428
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Reni Syndrome	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse...	OMIM:617575
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ...	OMIM:615010
Primary Peritoneal Carcinoma	Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting	ORPHA:168829
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Increased circulating antibody level, Myosit...	OMIM:617591
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Hepatomegaly, Dicarboxylic aciduria	ORPHA:159
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Hemochromatosis, Type 3	Neutropenia, Anemia, Lymphopenia	OMIM:604250
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Renal insufficiency	ORPHA:2123
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Sinusitis, ...	ORPHA:2686
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Cryoglob...	ORPHA:33226
Tempi Syndrome	Abnormality of the kidney, Increased circulating IgG level, Ascites, Polycythemia, Increased hema...	ORPHA:284227
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Anemia, Gout	ORPHA:510
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uv...	OMIM:607115
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Immune Dysregulation, Autoimmunity, And Autoinflammation	Decreased circulating complement C3 concentration, Increased circulating interleukin 8 concentrat...	OMIM:620514
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Hyperechogenic ...	OMIM:613845
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Diarrhea 7, Protein-Losing Enteropathy Type	Diarrhea, Abdominal colic, Vomiting	OMIM:615863
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Cardio...	OMIM:256040
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Chronic diarrhea, ...	ORPHA:85445
Galactosemia I	Cirrhosis, Hepatomegaly, Galactosuria, Diarrhea, Vomiting, Increased level of galactitol in urine...	OMIM:230400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Renal amyloidosis, Conjunctivitis, Renal insufficien...	OMIM:191900
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea	OMIM:251850
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal in...	OMIM:618882
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Nephronophthisis 9	Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ...	ORPHA:133
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Diarrhea, Skin rash, Leukoc...	OMIM:610377
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice	ORPHA:464370
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di...	ORPHA:650
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Enterokinase Deficiency	Diarrhea	OMIM:226200
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac...	OMIM:603585
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia, Renal insuff...	ORPHA:27
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarrhea, Esophagitis, Vomiting	OMIM:619079
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Gout...	OMIM:617056
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati...	ORPHA:353298
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Acute Generalized Exanthematous Pustulosis	Cheilitis, Lymphadenopathy, Renal insufficiency, Cholestasis, Leukocytosis, Predominantly dermal ...	ORPHA:293173
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus e...	ORPHA:90033
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Hirschsprung Disease	Intestinal obstruction, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal...	ORPHA:388
Bardet-Biedl Syndrome 16	Recurrent otitis media, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disea...	OMIM:615993
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto...	OMIM:603553
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:610725
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Increased circulating a...	ORPHA:77259
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Herpes simplex encephalitis, Recurrent herpes	OMIM:610551
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Gliosis	OMIM:125700
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil...	ORPHA:486
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltr...	OMIM:620532
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuria, Leukopenia, Thrombocytop...	OMIM:301110
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Enteric Anendocrinosis	Diarrhea, Malabsorption, Vomiting	ORPHA:83620
Al Amyloidosis	Abnormality of the kidney, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Renal interstitial ...	ORPHA:85443
Systemic Sclerosis	Gastroparesis, Bowel incontinence, Pericarditis, Anti-topoisomerase I antibody positivity, Dyspha...	ORPHA:90291
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Microsporidiosis	Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio...	ORPHA:2552
Diarrhea 13	Vomiting, Secretory diarrhea	OMIM:620357
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Anti-smooth muscle antibody po...	ORPHA:64743
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ...	ORPHA:449427
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple...	OMIM:269200
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Orotic Aciduria	Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Atelis Syndrome 1	Anemia, Eczematoid dermatitis, Hypothyroidism, Leukopenia, Thrombocytopenia, Bronchiectasis, Decr...	OMIM:620184
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Renal insufficiency, Inf...	ORPHA:83317
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Acute kidney injury, Increased circulating interleuk...	ORPHA:542323
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infectio...	OMIM:619487
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Autoimmunity	OMIM:618398
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Atopic dermatitis, Autoimmunity	ORPHA:2902
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hypohidrosis, Recurrent respiratory infections, Hepatitis	ORPHA:363523
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Wolman Disease	Hepatomegaly, Splenomegaly, Adrenal calcification	OMIM:620151
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Vomiting, Nause...	ORPHA:90003
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Relapsing Fever	Acute kidney injury, Jaundice, Anemia, Hematuria, Diarrhea, Leukocytosis, Vomiting, Neutrophilia,...	ORPHA:91547
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Short foot, Clinodactyly of the 5th finger, Cutaneous mastocytosis, Joint contracture of the 5th ...	OMIM:248910
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Diarrhea, Abnor...	ORPHA:54251
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Abnormality of the kidne...	ORPHA:228123
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M...	ORPHA:3226
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Osteolysis, Pancytopenia, Maculopapular exanthe...	ORPHA:98850
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Glomerulopathy, Hematuria, Gastroesophageal reflux, Myositis...	ORPHA:183
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti...	ORPHA:228426
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Unilateral renal ...	OMIM:614576
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Primary hypothyroidism, Thyroiditis, Chronic mucocutaneous candidias...	ORPHA:391487
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G...	ORPHA:809
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep...	OMIM:104200
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Ménétrier Disease	Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Giant hypertrophic gastritis, Abd...	ORPHA:2494
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf...	OMIM:615846
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Episodic vomiting, Pancytopenia, Recurrent myoglobinuria, Glomerular sclerosis, Focal seg...	OMIM:607426
Cryoglobulinemia, Familial Mixed	Hematuria, Cryoglobulinemia, Abnormal renal physiology, Proteinuria, Chronic kidney disease	OMIM:123550
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Pancytopenia, Diarrhea, Recurrent urinary tract infections, M...	ORPHA:90045
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In...	OMIM:618213
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption	OMIM:606824
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Bone marrow hypocellularit...	OMIM:301108
Nephronophthisis 1	Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ...	OMIM:256100
Pfapa Syndrome	Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Infectious encephalitis	ORPHA:42642
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA a...	ORPHA:1855
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria	ORPHA:839
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia	OMIM:617341
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorch...	OMIM:612541
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Drug-Induced Lupus Erythematosus	Decreased circulating complement C3 concentration, Lupus anticoagulant, Anemia, Hematuria, Malar ...	ORPHA:231111
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting	ORPHA:30925
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy...	OMIM:619155
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema...	ORPHA:48377
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614455
Familial Mediterranean Fever	Intestinal obstruction, Pancreatitis, Lymphadenopathy, Diarrhea, Arthritis, Skin rash, Leukocytos...	ORPHA:342
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Fasciitis	ORPHA:3165
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Acquired Ichthyosis	Autoimmunity, Renal insufficiency, Recurrent skin infections	ORPHA:454
Denys-Drash Syndrome	Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy	ORPHA:220
Microlissencephaly	Pneumonia	ORPHA:1083
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Decreased circulating I...	ORPHA:505248
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Reticulocytosis, Decreased hemoglobin concentration, Renal insufficiency, Hemolyti...	ORPHA:713
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Feeding difficulties	OMIM:620270
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Increased circulating antibody level, Pancytopenia, Thrombocytop...	ORPHA:77261
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf...	OMIM:614868
Linear Iga Dermatosis	Autoimmunity, Renal neoplasm	ORPHA:46488
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Pure red cell aplasia, Primary adrenal ins...	ORPHA:589
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Nephroti...	ORPHA:575
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Recurrent pharyngi...	ORPHA:293978
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Anemia, Renal tubular dysfunction, Vomiting, Hyperphosphaturia, Glycosuria, Renal F...	ORPHA:436271
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis...	ORPHA:85414
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Constipation, Hyperphosphaturia, Splenomegaly, Am...	OMIM:239200
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating antibody level, Abnormal blad...	ORPHA:284
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulating ...	ORPHA:319251
Chromosome 19P13.13 Deletion Syndrome	Diarrhea, Abdominal pain, Vomiting, Constipation, Feeding difficulties	OMIM:613638
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Vascular Hyalinosis	Diarrhea, Hematochezia, Malabsorption	OMIM:277175
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Diarrhea, Hemoglobinuria, Coombs-positive hemolytic anemia, Abnormal...	ORPHA:90035
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Diarrhea 12, With Microvillus Atrophy	Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea	OMIM:619445
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce...	ORPHA:221139
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Renal insufficiency, Renal cyst, B...	ORPHA:445038
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth...	ORPHA:228119
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Anemia, Glomerular crescent formation, Ant...	OMIM:233450
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Lead Poisoning	Abnormal T cell morphology, Anemia, Skin rash, Increased circulating IgE level, Abnormality of hu...	ORPHA:330015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni...	OMIM:615688
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V...	OMIM:615237
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Senior-Boichis Syndrome	Tubular luminal dilatation, Cholestasis, Ascites, Abnormal renal insterstitial morphology, Stage ...	ORPHA:84081
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Fabry Disease	Anemia, Urinary mulberry cells, Diarrhea, Vomiting, Nausea, Proteinuria, Lipiduria, Left ventricu...	OMIM:301500
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Vomiting, Nausea, Thrombocytopenia, Oliguria	ORPHA:466650
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3-positive T c...	ORPHA:760
Systemic Lupus Erythematosus, Susceptibility To, 6	Abnormality of the kidney, Antinuclear antibody positivity, Abnormal renal physiology, Systemic l...	OMIM:609939
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption	ORPHA:309108
Nephronophthisis 4	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c...	OMIM:606966
Maculopapular Cutaneous Mastocytosis	Diarrhea, Abdominal pain, Vomiting, Nausea	ORPHA:79457
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology	ORPHA:1164
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic...	OMIM:300555
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Increased skull ossification, Abnormal myelination	ORPHA:85179
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Abnormality of the lymphatic syst...	ORPHA:1414
Shigellosis	Cholestasis, Paralytic ileus, Myocarditis, Acute kidney injury, Hemolytic-uremic syndrome, Spleni...	ORPHA:810
Xq28 (MECP2) duplication	Gastroesophageal reflux, Constipation, Functional abnormality of the bladder, Dysphagia, Decrease...	DECIPHER:45
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Malonyl-Coa Decarboxylase Deficiency	Diarrhea, Abdominal pain, Vomiting, Constipation, Chronic constipation	OMIM:248360
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran...	OMIM:137940
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Intermittent diarrhea, Feeding difficulties, Gastroesophageal reflux	OMIM:619971
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j...	OMIM:274150
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi...	OMIM:615482
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Anemia,...	OMIM:276700
Hepatic Veno-Occlusive Disease	Jaundice, Renal insufficiency, Ascites, Hepatomegaly	ORPHA:890
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Hypothyroidism, Incr...	ORPHA:84064
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Dracunculiasis	Diarrhea, Nausea and vomiting	ORPHA:231
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly...	OMIM:612387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Chylomicron Retention Disease	Malnutrition, Steatorrhea, Diarrhea, Vomiting	OMIM:246700
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Recurrent otitis media, Gastroesophageal reflux, Bile duct proliferation, V...	OMIM:619525
Alport Syndrome 1, X-Linked	Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Thr...	OMIM:301050
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas...	OMIM:612301
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:254900
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B...	OMIM:612444
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin ra...	ORPHA:398124
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Ascites, Focal segmental glomerulosclerosis, Reduced circulati...	ORPHA:567546
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen c...	ORPHA:369
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Renal tubular acidosis,...	ORPHA:264580
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Diarrhea, Proximal tubulopathy, Renal cyst, Vomiting, Pericarditis, Ne...	OMIM:212065
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting	OMIM:620137
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ...	OMIM:615577
Macrocephaly/Autism Syndrome	Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop...	OMIM:605309
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Sialidosis Type 2	Ascites, Hepatomegaly, Nephropathy, Splenomegaly	ORPHA:87876
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis	ORPHA:280785
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Idiopathic Achalasia	Bronchitis, Recurrent aspiration pneumonia	ORPHA:930
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Familial Mediterranean Fever	Hepatomegaly, Diarrhea, Crohn's disease, Arthritis, Leukocytosis, Vomiting, Pericarditis, Nephrot...	OMIM:249100
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233710
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria	OMIM:222100
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio...	ORPHA:440713
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria	OMIM:615605
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Familial Mediterranean Fever, Autosomal Dominant	Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Anemia, Malar ...	OMIM:620321
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Vomiting,...	OMIM:257200
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, ...	ORPHA:449563
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea	OMIM:613217
Crimean-Congo Hemorrhagic Fever	Hematemesis, Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Cholecystitis, Morbilliform ras...	ORPHA:99827
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Nephronophthisis-Like Nephropathy 2	Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Bronchiectasis, Stage 5 chronic ki...	OMIM:619468
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Renal tubular acidosis, Diarrhea, Myoglo...	ORPHA:79240
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Ascites, Exocrine pancreatic insuf...	ORPHA:1667
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly, Renal insufficiency	OMIM:251290
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Renal hypoplasia, Severe B lymphocytopenia, Macron...	OMIM:620005
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu...	OMIM:615244
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Nephronophthisis 11	Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal tubular atrop...	OMIM:613550
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, A...	ORPHA:169090
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Bloom Syndrome	Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Gastroesophageal reflux, Recu...	ORPHA:125
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis	OMIM:270150
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia, Vomiting, Mild proteinuria, Renal insufficiency	OMIM:619147
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibrosis	OMIM:615630
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:79330
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi...	OMIM:266900
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Splenomegaly, Cholangit...	ORPHA:3260
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis	ORPHA:3318
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Inc...	ORPHA:91500
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Diarrhea, Lymphocytosis, Myeloprolife...	ORPHA:79456
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233690
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Autoimmunity, Abnormal urinary color, Systemic lupus erythematosus	ORPHA:90036
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Reticulocytosis, Gout, Reduc...	OMIM:232800
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Leukocytosis, Abnorma...	ORPHA:1451
Cardiogenic Shock	Oliguria, Hepatomegaly	ORPHA:97292
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Anemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoac...	OMIM:220110
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a...	ORPHA:73263
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds	ORPHA:35710
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hepatic steatosis, Renal insufficiency, Aminoaciduria, Lacticaciduria	OMIM:619386
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Diarrhea, Vomiting, Thrombocytopenia, Leukopenia, Stage 5 chronic kid...	OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai...	OMIM:279000
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Immunodeficiency 88	Eosinophilia	OMIM:619630
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Hematochezia	ORPHA:103910
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o...	ORPHA:100082
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren...	ORPHA:75233
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Dengue Fever	Gastrointestinal hemorrhage, Hypotension, Epistaxis, Cerebral hemorrhage, Leukopenia, Thrombocyto...	ORPHA:99828
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi...	OMIM:277400
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Hemolytic anemia, Acute kidney injury	ORPHA:57
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Elevated circulating hepatic transaminase concent...	OMIM:214950
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:136680
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancrea...	OMIM:612714
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Cirrhosis, Decreased circulating total IgM, Chronic diarrhea, Decreased c...	ORPHA:90363
Vici Syndrome	Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG...	OMIM:242840
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Micropenis	OMIM:613861
Hellp Syndrome	Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Vomiting, Nausea, Throm...	ORPHA:244242
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Jaundice, Anemia, Pancytopenia, Hemosiderinuria, Abnormal erythrocyte enzyme...	ORPHA:447
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Hepatitis, Splenomegaly, Abnormal pleura morphology	ORPHA:584
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria	OMIM:618913
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Anti-dsDNA antibody positivity, Anti-histone antibody posit...	ORPHA:163525
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Diarrhea, Skin rash, Autoimmune antibody positivity, ...	ORPHA:3386
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, ...	OMIM:613404
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Diarrhea, Leukocytosis, Ascites, Atopic dermatitis, Vomiting, Hematochezia, ...	ORPHA:2070
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m...	OMIM:240300
Cholesteryl Ester Storage Disease	Steatorrhea, Cirrhosis, Anemia, Hepatomegaly, Periportal fibrosis, Diarrhea, Bone-marrow foam cel...	OMIM:278000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Perin...	OMIM:617718
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Glomerular sclerosis, Skin r...	ORPHA:247691
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint...	OMIM:174000
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Chronic diarrhea, Autoimmune antibo...	ORPHA:398063
Pearson Syndrome	Steatorrhea, Chronic diarrhea, Reticulocytosis, Bone marrow hypocellularity, Dysphagia, Splenomeg...	ORPHA:699
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin...	OMIM:263400
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo...	ORPHA:1929
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Vesicoureteral reflux, Cholestasis, Leuk...	OMIM:615895
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Paroxysmal Nocturnal Hemoglobinuria 2	Diarrhea, Abdominal pain	OMIM:615399
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Cholesteryl Ester Storage Disease	Diarrhea, Nausea and vomiting, Hepatic failure	ORPHA:75234
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, Tubulointerstitial fibros...	OMIM:607944
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Adrenocorticotropic hormone deficiency,...	ORPHA:199299
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Cryptorchidism	OMIM:214110
Diamond-Blackfan Anemia 5	Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney dis...	ORPHA:3156
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Feeding difficulties, Vomiting	OMIM:612075
Corticosteroid-Binding Globulin Deficiency	Hypertension, Anemia, Hypotension	OMIM:611489
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Autoimmunity, Antinuclear antibody positivity, S...	ORPHA:79480
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Anemia, Iron deficiency anemia, Gastroesophageal reflux, Abnormali...	ORPHA:79408
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hyp...	ORPHA:562
Acute Radiation Syndrome	Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia	ORPHA:454831
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:971
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Oroticaciduria, Diarrhea, Vomiting, Nausea,...	OMIM:222700
Glutaric Aciduria Iii	Diarrhea, Vomiting	OMIM:231690
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Cystinosis	Nephropathy, Portal hypertension, Vomiting, Proteinuria, Renal insufficiency, Aminoaciduria, Rena...	ORPHA:213
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Vomiting, Increased circulating IgM level, Thrombocytopenia, Infe...	ORPHA:448237
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Episodic vomiting, Microvesicular hepatic steatosis, Cholestasis, Prolon...	OMIM:619377
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Par...	ORPHA:439232
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Increased circulating antibo...	OMIM:181000
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis	OMIM:619223
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Gaucher Disease	Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Increased circulating antibo...	ORPHA:355
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrop...	OMIM:256300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Cryptorchidism	OMIM:620365
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Sandhoff Disease, Juvenile Form	Diarrhea, Dysphagia, Constipation	ORPHA:309162
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incontinence, Constipa...	ORPHA:84085
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Netherton Syndrome	Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I...	OMIM:256500
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Diarrhea,...	ORPHA:18
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Vomiting, Nephrocalcinosis	OMIM:143880
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system	OMIM:267430
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Laurence-Moon Syndrome	Displacement of the urethral meatus, Renal insufficiency, Congenital hepatic fibrosis, Hypoplasia...	ORPHA:2377
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Malakoplakia	Hematuria, Diarrhea, Skin rash, Dysuria, Urinary hesitancy, Urinary urgency, Inflammatory abnorma...	ORPHA:556
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hepatitis, Adrenocorticotropin...	ORPHA:199296
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hydronephrosis, Hepatic steatosis, Renal insufficiency	OMIM:615996
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Anemia, Increased urinary porphobilinogen, Neurogenic...	ORPHA:79473
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Vomiting, Constipation, Microscopic hematuria, Thickened glomerular basem...	OMIM:308940
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Dysphagia, Hepatic steatosis, Jaundice, Hepatocellular ca...	OMIM:277900
Overlap Myositis	Abnormality of the kidney, Arthritis, Rheumatoid arthritis, Antinuclear antibody positivity, Dysp...	ORPHA:206572
Marburg Hemorrhagic Fever	Increased circulating antibody level, Skin rash, Reticulocytosis, Pericarditis, Leukopenia, Lymph...	ORPHA:99826
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Periodontitis, Recurrent bacte...	OMIM:214500
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Diabetes mellitus, Hepatic steatosis	OMIM:612526
Central Diabetes Insipidus	Anorexia, Nausea and vomiting, Diarrhea	ORPHA:178029
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Kawasaki Disease	Myocarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngit...	ORPHA:2331
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic constipati...	ORPHA:261222
Pancreatoblastoma	Diarrhea, Abdominal distention, Vomiting, Abdominal pain	ORPHA:677
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Urinary incontinence, Abnormal nephron mo...	ORPHA:93108
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Atelectasis, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, De...	OMIM:306400
Refsum Disease	Renal insufficiency, Splenomegaly	ORPHA:773
Ciliary Dyskinesia, Primary, 14	Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections,...	OMIM:613807
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Jeune Syndrome	Abnormality of the liver, Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Lymphopenia, Bone marrow h...	OMIM:127550
Celiac Disease, Susceptibility To, 1	Steatorrhea, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis...	OMIM:212750
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Botulism	Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia	ORPHA:1267
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec...	OMIM:251260
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Anemia, Myoglobinuria	OMIM:255125
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Constipatio...	OMIM:615112
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Ileus, Constipation, Recurrent pneumonia, Splenomegaly, Dysphagia, Decreased circul...	OMIM:613327
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Diarrhea, Splenomegaly, Cardiomegaly, Heparan sulfate excretion in urine	OMIM:252920
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Cholera	Acute kidney injury, Diarrhea, Aspiration pneumonia, Vomiting, Abnormality of renal excretion, De...	ORPHA:173
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Dyskeratosis Congenita, Digenic	Anemia, Gastroesophageal reflux, Decreased circulating IgG level, Dysphagia, Decreased circulatin...	OMIM:620040
Intestinal Botulism	Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia	ORPHA:178481
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Agel Amyloidosis	Xerostomia, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease, Keratoconjun...	ORPHA:85448
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Bronchitis, Arthritis, D...	ORPHA:420741
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Stomatitis, ...	OMIM:232240
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Glycogen Storage Disease Ixb	Diarrhea, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho...	OMIM:614921
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin...	ORPHA:811
Cog7-Cdg	Diarrhea, Feeding difficulties	ORPHA:79333
Wild Type Attr Amyloidosis	Intermittent diarrhea, Hepatomegaly, Renal insufficiency, Chronic diarrhea, Bowel incontinence, N...	ORPHA:330001
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Hepatomegaly, Decreased liver function	OMIM:238970
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Alg12-Cdg	Hypospadias, Gastroesophageal reflux, Partial absence of specific antibody response to Haemophilu...	ORPHA:79324
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Hyperprolinemia Type 2	Prolinuria, Diarrhea, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria, Dysph...	ORPHA:79101
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, Lymphopenia, Erythroderma, ...	ORPHA:247353
Ethylene Glycol Poisoning	Renal tubular epithelial necrosis, Gastritis, Hematuria, Renal tubular dysfunction, Vomiting, Nau...	ORPHA:31826
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Catastrophic Antiphospholipid Syndrome	Myocarditis, Abnormality of the kidney, Abnormal circulating cytokine concentration, Lupus antico...	ORPHA:464343
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Microcytic anemia, Ketonuria, Neutropenia	OMIM:251900
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Autoimmunity	ORPHA:33577
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615451
Aneurysm Of Sinus Of Valsalva	Oliguria, Bacterial endocarditis	ORPHA:1054
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Myelitis, Increased circulating IgG level, Leukocyto...	ORPHA:297
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Asplen...	OMIM:244400
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Small intestinal dysmoti...	ORPHA:298
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati...	ORPHA:900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho...	OMIM:618223
Immunodeficiency 59 And Hypoglycemia	Sepsis, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Decreased pr...	OMIM:233600
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly	ORPHA:290
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis...	OMIM:210250
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Farber Lipogranulomatosis	Arthritis, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Hydronephrosis	ORPHA:2886
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Congen...	ORPHA:436252
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, Jaundice,...	ORPHA:533
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Snakebite Envenomation	Acute kidney injury, Diarrhea, Neuromuscular dysphagia, Vomiting, Thrombocytopenia, Pseudobulbar ...	ORPHA:449285
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Hepatomegaly, Hematuria, Generalized aminoaciduria, M...	OMIM:219800
Foodborne Botulism	Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia	ORPHA:228371
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting	ORPHA:29822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Leukocytosis,...	OMIM:618278
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615504
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis	OMIM:616963
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency	ORPHA:86818
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis	OMIM:619351
Neuroendocrine Tumor Of The Colon	Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o...	ORPHA:100080
Interstitial Cystitis	Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the...	ORPHA:37202
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Gout, Renal ...	OMIM:162000
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Poly...	ORPHA:2905
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Radiation Proctitis	Intestinal obstruction, Diarrhea, Abdominal pain, Bowel incontinence, Constipation, Hematochezia,...	ORPHA:70475
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e...	OMIM:619609
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Esophagitis, Eosinophilic, 2	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Pediatric-Onset Graves Disease	Jaundice, Hepatomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Anti-thyr...	ORPHA:525731
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Anti-smooth muscle antibody positivity, Hematuria, Gastroesophageal reflux, Aspiration pneumonia,...	ORPHA:1018
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Trichohepatoenteric Syndrome 2	Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis	OMIM:614602
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Renal insufficiency, Intrahepatic biliary atresia, Nephropathy, Portal h...	ORPHA:1454
Inhalational Botulism	Diarrhea, Nausea and vomiting, Xerostomia, Constipation	ORPHA:254504
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Chronic neutropenia, Nephro...	ORPHA:79259
Liddle Syndrome	Constipation, Nephropathy, Renal insufficiency	ORPHA:526
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Livedoid Vasculopathy	Lupus anticoagulant, Anemia, Pancytopenia, Superficial dermal perivascular inflammatory infiltrat...	ORPHA:542643
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Ciliary Dyskinesia, Primary, 46	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:619436
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid...	ORPHA:64744
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Pancytopenia, Renal hypoplasia, Renal dysplasia, Renal insufficiency	ORPHA:85321
Alg1-Cdg	Nephrotic syndrome, Chronic diarrhea, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ...	OMIM:620233
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Renal Nutcracker Syndrome	Hematuria, Anemia, Renal artery stenosis, Microscopic hematuria, Nausea, Proteinuria	ORPHA:71273
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Mucopolysaccharidosis, Type Iiia	Diarrhea, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252900
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Diarrhea, Small intestinal dysmotility, Vomiting, Constipation...	ORPHA:95427
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency	OMIM:620235
Cocaine Intoxication	Acute kidney injury, Hematuria, Bloody diarrhea, Vomiting, Nausea, Proteinuria, Glomerulonephriti...	ORPHA:90068
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Hepatomegaly, Diarrhea, Proximal tubulopathy, Vomiting	OMIM:560000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Feeding difficulties	ORPHA:927
Aromatic L-Amino Acid Decarboxylase Deficiency	Gastroesophageal reflux, Diarrhea, Constipation, Dysphagia, Feeding difficulties	ORPHA:35708
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Increased hepatic glycogen content, Diarrhea, Vomiting, Glycosuria, Proteinuria, Pa...	ORPHA:263455
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Hepatomegaly, Splenomegaly, Impaired T cell function	OMIM:201100
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Abdominal pain, Vo...	OMIM:603041
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Bullous Pemphigoid	Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity	ORPHA:703
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Skin rash, Constipation, Splenomegaly, Infec...	ORPHA:99745
Hyaline Fibromatosis Syndrome	Diarrhea	OMIM:228600
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub...	OMIM:615862
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:264350
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Reticular Dysgenesis	Diarrhea, Malabsorption	ORPHA:33355
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Hyperzincemia With Functional Zinc Depletion	Diarrhea	OMIM:601979
Cutaneous Mastocytoma	Diarrhea, Abdominal pain, Vomiting, Nausea	ORPHA:79455
Hardikar Syndrome	Hematemesis, Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenom...	OMIM:301068
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Myoglobinuria, Leukocytosis, Aspiration pneumonia, Vom...	ORPHA:94093
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Microvesicular h...	OMIM:613070
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Nausea, Poor appetite, Dysphagia	ORPHA:352447
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Pleural effusion, Bronchiectasis, Interlobular ...	ORPHA:79126
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the eye, Ec...	ORPHA:379
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Aortic regurgitation, Melena, Hypotension, Pulmon...	ORPHA:99147
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea	ORPHA:100924
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c...	OMIM:618061
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ...	OMIM:267700
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Abdominal pain, Recurrent aphthous stomatitis, Colitis	OMIM:613960
Ddost-Cdg	Constipation, Nephrotic range proteinuria, Hepatic steatosis, Gastroesophageal reflux	ORPHA:300536
Pyomyositis	Myositis, Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis	ORPHA:764
Combined Malonic And Methylmalonic Acidemia	Vomiting, Intermittent diarrhea, Nasogastric tube feeding	ORPHA:289504
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Arthritis, Uric acid nephrolithiasis, Crystalluria, Hyp...	ORPHA:411536
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Pancreatitis, Diarrhea, Dysuria, Thrombocytopenia, Dysphagia...	ORPHA:36426
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art...	ORPHA:449280
Rapadilino Syndrome	Diarrhea, Feeding difficulties	OMIM:266280
Porphyria, Acute Intermittent	Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Paralytic ileus	OMIM:176000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Aminoaciduria	OMIM:616026
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Thrombocytopenia...	OMIM:611209
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Diarrhea, Splenomegaly, Dysphagia, Heparan sulfate excretion in urine	OMIM:252930
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Diarrhea, Proteinuria, Conjunctivitis, Renal insufficiency, Uveitis	ORPHA:90321
Primary Hyperoxaluria Type 1	Hematuria, Anemia, Decreased glomerular filtration rate, Recurrent urinary tract infections, Hype...	ORPHA:93598
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Lichen Planopilaris	Hepatitis	ORPHA:525
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Pulmonary lymphangiectasia, Renal insufficiency	OMIM:247410
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Feeding difficulties, Vomiting	OMIM:177735
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Diarrhea, Vomiting	ORPHA:79319
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Diarrhea	ORPHA:49827
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Visceral Myopathy 1	Abdominal distention, Intestinal pseudo-obstruction, Gastroparesis, Diarrhea, Abdominal pain, Vom...	OMIM:155310
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Abnormality of complement system, Prot...	ORPHA:79086
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis...	ORPHA:50918
Nk-Cell Enteropathy	Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Hematochezia	ORPHA:263665
Megabladder, Congenital	Stage 5 chronic kidney disease, Fetal megacystis, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Bone marrow hypocellularity, Throm...	OMIM:603467
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615505
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophilia, Hepatic cysts	OMIM:617425
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural effusion, Pericarditi...	ORPHA:509
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit...	OMIM:248250
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dysphagia, Dark uri...	ORPHA:368
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Diarrhea, Abdominal pain, Vomiting, Hematochezia, Malabsorption, Xerostomia	OMIM:175500
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina...	ORPHA:67
Neuroendocrine Tumor Of Stomach	Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow...	ORPHA:100075
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, T lymphocytopenia	ORPHA:2959
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens...	OMIM:251880
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia, Neutropenia	OMIM:618253
Reynolds Syndrome	Gastrointestinal hemorrhage, Steatorrhea, Jaundice, Hepatomegaly, Anti-centromere antibody positi...	OMIM:613471
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro...	OMIM:613021
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum, Nephrolithiasis, Portal h...	ORPHA:797
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Abdominal pain, Chronic diarrhea, Nausea and vomiting	ORPHA:65682
Scheie Syndrome	Mucopolysacchariduria, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93474
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h...	OMIM:267010
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Congenital-Onset Steinert Myotonic Dystrophy	Encopresis, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Dysphagia	ORPHA:589821
Netherton Syndrome	Ectopic kidney, Skin rash, Decreased circulating antibody level, Increased circulating IgE level,...	ORPHA:634
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ...	ORPHA:488627
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Eosinoph...	ORPHA:2314
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur...	ORPHA:79233
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Diarrhea, Arthritis, Skin rash, Myositis, Leukocytosis, ...	ORPHA:32960
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300554
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly...	OMIM:606003
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Generalized aminoaciduria, Renal tubular dysfunction, Hyp...	OMIM:227810
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Bile Acid Synthesis Defect, Congenital, 2	Diarrhea, Steatorrhea, Hepatic failure	OMIM:235555
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Stage 5 chronic kidney disease, Recurrent pneumonia	OMIM:614378
Xanthinuria, Type Ii	Increased urinary hypoxanthine level, Renal insufficiency, Xanthinuria, Nephrolithiasis	OMIM:603592
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Abnormality of complement system, Splenomegaly, Hepat...	ORPHA:2348
Glycogen Storage Disease Ia	Intermittent diarrhea, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtrati...	OMIM:232200
Biotinidase Deficiency	Hepatomegaly, Diarrhea, Seborrheic dermatitis, Skin rash, Organic aciduria, Vomiting, Splenomegal...	OMIM:253260
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Anemia, Pancreatitis, Abnormality of the urethra, Dysuria, Thrombocy...	ORPHA:537
Martin-Probst Syndrome	Pancytopenia, Chordee, Proteinuria, Micropenis, Renal insufficiency	OMIM:300519
Bloom Syndrome	Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Bronchiectasis, Decreased c...	OMIM:210900
Acute Adrenal Insufficiency	Renal salt wasting, Normocytic anemia, Diarrhea, Constipation, Autoimmunity, Decreased urinary po...	ORPHA:95409
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane...	OMIM:146255
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:620032
Mirage Syndrome	Anemia, Aspiration pneumonia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia, Adre...	OMIM:617053
Melas	Anemia, Diarrhea, Proximal tubulopathy, Focal segmental glomerulosclerosis, Vomiting, Constipatio...	ORPHA:550
Necrotizing Enterocolitis	Neutropenia, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Shock	ORPHA:391673
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Congenital Toxoplasmosis	Diarrhea	ORPHA:858
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Proprotein Convertase 1/3 Deficiency	Diarrhea, Malabsorption	OMIM:600955
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Vomiting, Glycos...	ORPHA:411634
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Rhe...	ORPHA:79128
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Paraproteinemia	ORPHA:171442
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Pancreatitis, Recurrent aphthous stomatitis, Lymphad...	ORPHA:117
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Recurrent otitis media, Diarrhea, Dermatan sulfate excretion in urine, Recurrent pn...	OMIM:309900
Chronic Mucocutaneous Candidiasis	Cheilitis, Hepatitis, Recurrent respiratory infections, Skin rash	ORPHA:1334
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Epi...	OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Diarrhea, ...	OMIM:608836
Trichohepatoenteric Syndrome 1	Intractable diarrhea, Jaundice, Cirrhosis, Hepatomegaly, Hypospadias, Galactosuria, Decreased cir...	OMIM:222470
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea...	OMIM:614922
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption	ORPHA:71
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, Eczem...	OMIM:223370
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multiple...	OMIM:613095
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Diar...	ORPHA:3452
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Ascites, Hypoplasia of the thymus, Right ventricular hypert...	OMIM:613177
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura...	ORPHA:167
Encephalitis Lethargica	Autoimmunity, Urinary incontinence, Increased circulating antibody level, Bowel incontinence	ORPHA:83600
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic diarrhea, Poor suck, Feeding difficulties, Chronic constipation	OMIM:617788
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Abscess, Osteomyelitis	OMIM:612852
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Anemia	OMIM:620366
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn...	OMIM:137920
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Decreased circulating antibody level, Ascites, Erysipelas, Lymph...	ORPHA:2136
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Gitelman Syndrome	Neoplasm of the pancreas, Urinary incontinence, Iron deficiency anemia, Renal tubular acidosis, D...	ORPHA:358
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod...	OMIM:211600
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Dermatitis Herpetiformis	Autoimmunity, Microcytic anemia, Eczematoid dermatitis	ORPHA:1656
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Diarrhea, Feeding difficulties, Vomiting	OMIM:250940
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Digeorge Syndrome	Recurrent otitis media, Anemia, Unilateral renal agenesis, Gastroesophageal reflux, Cholelithiasi...	OMIM:188400
Trisomy X	Constipation, Autoimmunity, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Methanol Poisoning	Diarrhea, Abdominal pain, Vomiting	ORPHA:31825
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:607143
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:614679
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anemia, Proximal tubulopathy, Organic aciduria, Medullary nephroc...	OMIM:619743
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Rheumatoid arthritis, Abnormal circulating ...	ORPHA:85410
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Arthritis, Uric acid nephrolithiasis, Crystalluria, Gout, Hyperuricosuria, R...	ORPHA:411543
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Proteinuria, Nephropathy	OMIM:209010
Congenital Disorder Of Glycosylation, Type Iij	Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepati...	OMIM:613489
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine	OMIM:607015
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, ...	ORPHA:97287
Lissencephaly, X-Linked, 2	Diarrhea, Feeding difficulties in infancy	OMIM:300215
Dermatomyositis	Myocarditis, Anti-Mi2 antibody positivity, Anti-MDA5 antibody positivity, Anti-SUMO-activating en...	ORPHA:221
Nocardiosis	Scleritis, Sepsis, Liver abscess, Thyroiditis, Lymphadenitis, Pericarditis, Conjunctivitis, Endoc...	ORPHA:31204
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly	OMIM:618440
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi...	OMIM:617092
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory...	ORPHA:284426
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting	OMIM:618314
Fabry Disease	Abnormal renal tubule morphology, Glomerulopathy, Anemia, Hematuria, Arthritis, Nephropathy, Neph...	ORPHA:324
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:608647
Urban-Rogers-Meyer Syndrome	Abnormality of the ureter, Increased circulating IgE level, Hypoplasia of penis	ORPHA:3409
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic...	OMIM:203800
Cryptococcosis	Cirrhosis, Pneumonia, Mediastinal lymphadenopathy, Prostatitis, Vomiting, Peritonitis, Systemic l...	ORPHA:1546
Budd-Chiari Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Ascites, ...	ORPHA:131
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia, Recurrent bacterial skin infections...	ORPHA:90186
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Renal amyloidosis, Chronic kidney disease	ORPHA:314652
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Nasogastric tube feeding, Gastroesophageal reflux	OMIM:607906
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Hepatomegaly, Abnormality of the urinary system, Splenomegaly	OMIM:230500
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Classic Galactosemia	Diarrhea, Feeding difficulties, Vomiting, Hepatic failure	ORPHA:79239
Cronkhite-Canada Syndrome	Anorexia, Abdominal pain, Diarrhea, Malabsorption	ORPHA:2930
Wells Syndrome	Eosinophilia	ORPHA:901
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph...	OMIM:158310
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Gastroesophageal reflux, Recurrent urinary tract infections, Neurogenic bladder, Ves...	OMIM:191800
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Alopecia Totalis	Autoimmunity	ORPHA:700
Pemphigus Vulgaris	Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Autoimmunity	ORPHA:704
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis	OMIM:211400
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Chronic diarrhea, Abdominal pain, Vomiting, Chronic constipation	OMIM:142680
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Mucopolysacchariduria, Splenomegaly	ORPHA:583
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Stomatitis, Megaloblastic anemia, Thrombocyt...	ORPHA:79282
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Diarrhea, Vomiting	OMIM:608104
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hematuria, Proteinuria, Micronodular cirrhosis	OMIM:192315
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Giant Cell Arteritis	Hematuria, Mediastinal lymphadenopathy, Arthritis, Pericarditis, Renal insufficiency	ORPHA:397
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Hypospadias	ORPHA:457485
Middle Ear Neuroendocrine Tumor	Chronic diarrhea	ORPHA:100084
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Impaire...	ORPHA:567
Hennekam-Beemer Syndrome	Pneumonia, Camptodactyly of finger, Clinodactyly of the 5th finger, Mastocytosis	ORPHA:2135
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Limited Cutaneous Systemic Sclerosis	Autoimmunity	ORPHA:220402
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tr...	ORPHA:662
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Relapsing Polychondritis	Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Art...	ORPHA:728
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Hepatomegaly, Decreased circulating IgA level	OMIM:606056
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por...	ORPHA:729
Hereditary Fructose Intolerance	Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti...	ORPHA:469
Blau Syndrome	Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Posterior uveitis, Nephropathy, Synovitis, ...	ORPHA:90340
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Diarrhea, Vomiting	ORPHA:42
Cornelia De Lange Syndrome 1	Hypospadias, Gastroesophageal reflux, Ectopic kidney, Abnormal renal morphology, Vesicoureteral r...	OMIM:122470
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Seborrheic dermatitis, Vesicoureteral reflux, De...	OMIM:274000
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep...	OMIM:208500
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Decreased circulating antibody level, Ascites, Secretory diarrhea, Hematochezia, Renal ...	OMIM:618183
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of...	ORPHA:93111
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Bilateral renal agenesis, Proteinuria	OMIM:191830
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Congenital Disorder Of Glycosylation, Type Ib	Diarrhea, Steatorrhea, Vomiting, Hepatic failure	OMIM:602579
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch...	OMIM:613808
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Generalized aminoaciduria, Leukocytosis, Splenomegaly, Hypochromic anemia	ORPHA:289157
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Arthritis, Constipation, Nephrotic syndrome, Thickened glom...	ORPHA:2614
Erdheim-Chester Disease	Anemia, Renal insufficiency, Skin rash, Dysuria, Hydronephrosis, Retroperitoneal fibrosis, Osteom...	ORPHA:35687
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Hepatic fibrosis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pleura morphology, Pneum...	ORPHA:2357
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Renal insufficiency, Tu...	OMIM:617595
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Diarrhea, Abdominal pain, Vomiting, Malabsorption	OMIM:226300
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Meningococcal Meningitis	Projectile vomiting, Skin rash, Renal insufficiency, Infectious encephalitis	ORPHA:33475
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Renal insufficiency	ORPHA:99879
Beta-Ketothiolase Deficiency	Thrombocytosis, Hypertension, Leukocytosis, Hypotension	ORPHA:134
Arteriosclerosis, Severe Juvenile	Anemia, Chronic kidney disease	OMIM:208060
Lyme Disease	Arthritis, Meningitis, Infectious encephalitis, Uveitis	ORPHA:91546
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency	ORPHA:3222
Adiposis Dolorosa	Diarrhea, Xerostomia, Constipation	ORPHA:36397
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti...	ORPHA:33001
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A...	ORPHA:178320
Yao Syndrome	Diarrhea, Abdominal pain, Xerostomia	OMIM:617321
Congenital Tufting Enteropathy	Abdominal distention, Steatorrhea, Chronic diarrhea, Vomiting, Secretory diarrhea, Malabsorption	ORPHA:92050
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Keratoconjunctiv...	ORPHA:79277
Neuroendocrine Neoplasm Of Appendix	Anorexia, Bowel urgency, Hypoactive bowel sounds, Episodic abdominal pain, Mechanical ileus, Cons...	ORPHA:100079
Congenital Disorder Of Glycosylation, Type Id	Diarrhea, Vomiting	OMIM:601110
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Chronic kidney disease, Renal tubular acidosis	ORPHA:324525
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus	ORPHA:861
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Bowel incontinence, Abnormality of t...	ORPHA:3027
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Gaisböck Syndrome	Increased hematocrit, Elevated diastolic blood pressure, Elevated plasma cell count, Increased re...	ORPHA:90041
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst	OMIM:615994
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:614935
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Conjunctivitis...	OMIM:263700
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Abnormal renal tubule morphology, Glomerulopathy, Cheilitis, Anemia, Hematu...	ORPHA:534
Cog4-Cdg	Intermittent diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, F...	ORPHA:263501
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Gastroesophageal reflux, Neurogenic bladder...	ORPHA:90324
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Acute Liver Failure	Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Hepatic periportal ...	ORPHA:90062
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria	OMIM:231530
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting	OMIM:212140
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination	ORPHA:352682
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea	ORPHA:1842
Encephalopathy, Ethylmalonic	Chronic diarrhea, Feeding difficulties	OMIM:602473
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Eec Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit...	ORPHA:1896
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea	OMIM:615084
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Diarrhea, Gastritis	ORPHA:2575
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis, Abnormal myelination, Cerebral hypomyelination	ORPHA:280210
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Acute Disseminated Encephalomyelitis	Herpes simplex encephalitis, Optic neuritis, Myelitis, Viral hepatitis	ORPHA:83597
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chron...	OMIM:617729
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Vomiting, Polyuria, Megacystis, Constipation	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Vomiting, Polyuria, Megacystis, Constipation	OMIM:304800
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Thrombocytopenia, Splenomegaly, Dysphagia, Recurre...	OMIM:230900
Stiff-Person Syndrome	Autoimmunity, Anemia	OMIM:184850
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Constipation, Functional abnormality of the bladde...	ORPHA:223
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Congenital megaureter, Gastroesophageal reflux, Hypercalciuria, Renal cyst, Nephrocalcinosis, Ren...	ORPHA:369837
Rhyns Syndrome	Nephronophthisis, Renal insufficiency, Chronic kidney disease	OMIM:602152
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi...	ORPHA:47159
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer...	OMIM:602522
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Hepatomegaly, Hepatic steatosis, Red-brown urine	ORPHA:228305
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Medullary Thyroid Carcinoma	Diarrhea, Dysphagia	ORPHA:1332
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu...	OMIM:613090
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Splenomegaly, Proteinuria, Micropenis	OMIM:216400
Juvenile Neuronal Ceroid Lipofuscinosis	Hyperhidrosis, Aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:79264
Familial Tumoral Calcinosis	Skin rash, Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Episcleritis, Histiocytosis, Hepatosplenome...	OMIM:602782
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Poor appetite	ORPHA:2221
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephroblastoma, Renal insufficiency, Hypospadias, Nephropathy	OMIM:194072
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, C...	OMIM:266920
Hyperuricemia, Hprt-Related	Hyperuricosuria, Podagra, Nephrolithiasis, Renal insufficiency	OMIM:300323
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Carcinoid Syndrome	Nausea and vomiting, Protracted diarrhea, Lack of bowel sounds, Episodic abdominal pain	ORPHA:100093
Cockayne Syndrome	Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Gastroesophageal reflux, Malar ras...	ORPHA:191
Young-Onset Parkinson Disease	Diarrhea, Nausea, Gastroparesis, Constipation	ORPHA:2828
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficie...	ORPHA:261494
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustu...	ORPHA:761
Timothy Syndrome	Pneumonia, Bronchitis, Hypothyroidism	OMIM:601005
Polymyositis	Abnormal renal tubule morphology, Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal ref...	ORPHA:732
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Diarrhea, Renal potassium...	OMIM:241200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:415
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Cholestasis, Biliary cirrhosis, Renal cyst, Bile duct...	OMIM:613610
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of T c...	ORPHA:2237
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cryptorchidism, Infectious encephalitis	ORPHA:1194
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Steatorrhea, Vomiting	OMIM:605911
Galloway-Mowat Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria	ORPHA:2065
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea	ORPHA:411703
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal...	OMIM:607364
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Periodontitis, Bone marrow hypocellula...	ORPHA:1775
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Japanese Encephalitis	Increased circulating antibody level, Diarrhea, Vomiting, Increased circulating IgM level, Neutro...	ORPHA:79139
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis	OMIM:133540
Ohdo Syndrome	Proteinuria	OMIM:249620
Holoprosencephaly	Gastroesophageal reflux, Hypoplasia of penis, Constipation, Proteinuria, Abnormality of the splee...	ORPHA:2162
Autoimmune Hypoparathyroidism	Autoimmunity, Autoimmune antibody positivity, Calcium nephrolithiasis	ORPHA:36913
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Cardiac arrest, Hypotension, Leukocytosis, Leukopenia, Dilated cardiomyopathy, Thrombocyt...	ORPHA:20
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Ppoma	Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,...	ORPHA:97278
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Nephrocalcinosis	OMIM:620152
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Feeding difficulties in infancy	OMIM:223900
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Alg8-Cdg	Diarrhea, Feeding difficulties, Vomiting	ORPHA:79325
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Scleromyxedema	Abnormality of the kidney, Gastroesophageal reflux, Paraproteinemia, Hypoperistalsis, Dysphagia	ORPHA:167635
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatinine clearance,...	ORPHA:405
Peripartum Cardiomyopathy	Myocarditis, Anemia, Increased circulating interferon-gamma concentration, Left ventricular hyper...	ORPHA:563
Addison Disease	Renal salt wasting, Normocytic anemia, Diarrhea, Constipation, Hashimoto thyroiditis, Thymoma, Au...	ORPHA:85138
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Joint hypermobility, Camptodactyly, Cervical C2/C3 vertebral fusion, Abnormal myelination	OMIM:617333
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Autoimmunity	ORPHA:91354
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diarrhea, Vomiting	ORPHA:3240
Gitelman Syndrome	Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Vomiting, Constipation, Nocturia, Ren...	OMIM:263800
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:251300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Diarrhea, Myoglobinuria, Vomiting, Hepatic necrosis, Hepatic steatosis	ORPHA:71212
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosi...	OMIM:617913
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea	OMIM:618805
Angioedema, Hereditary, 1	Diarrhea, Abdominal pain, Vomiting	OMIM:106100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea	OMIM:619484
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Neutropenia	ORPHA:79430
Kaposi Sarcoma	Diarrhea	ORPHA:33276
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
B4Galt1-Cdg	Diarrhea	ORPHA:79332
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Vomiting, Nausea, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Urinary incontinence, Diarrhea, Opt...	ORPHA:3385
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Vomiting, Hyperphosphaturia, Glycosuria, Constipation, Renal Fa...	ORPHA:411629
Hepatoerythropoietic Porphyria	Red urine, Purple urine, Red-brown urine, Keratoconjunctivitis, Recurrent bacterial skin infectio...	ORPHA:95159
Degcags Syndrome	Abnormal spleen morphology, Cholestasis, Leukopenia, Congenital hypoplastic anemia, Hypospadias, ...	OMIM:619488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Seborrheic dermatitis, B lymphocytopenia, Pancreatic hypoplasia, Su...	ORPHA:83617
Alström Syndrome	Urinary incontinence, Recurrent cystitis, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidn...	ORPHA:64
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular fai...	ORPHA:100078
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypocalciuria	OMIM:154020
Analbuminemia	Hypotension	OMIM:616000
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Inflammatory ab...	ORPHA:565612
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co...	OMIM:214100
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Left ventricular hype...	ORPHA:320
Monosomy 22	Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus	ORPHA:96123
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency, Ascites	OMIM:610965
Loeffler Endocarditis	Eosinophilia, Pericarditis, Left ventricular hypertrophy	ORPHA:75566
Familial Pancreatic Carcinoma	Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Ex...	ORPHA:1333
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Fanconi Anemia	Renal hypoplasia/aplasia, Anemia, Hydroureter, Hypospadias, Abnormal preputium morphology, Abnorm...	ORPHA:84
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Diarrhea, Renal potassium...	OMIM:601678
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk...	OMIM:619991
Alopecia Universalis	Autoimmunity	ORPHA:701
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Teratoma, Pineal	Abnormal abdomen morphology, Polyuria	OMIM:273120
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypospadias, Hydroureter, Hypoplasia of penis, Increased circ...	ORPHA:373
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Recurrent respiratory infections, Infecti...	ORPHA:354
Hereditary Angioedema Type 1	Diarrhea, Abdominal pain, Vomiting, Nausea, Dysphagia	ORPHA:100050
Dpm1-Cdg	Diarrhea, Gastrostomy tube feeding in infancy	ORPHA:79322
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency	ORPHA:1563
Congenital Myopathy 20	Chronic diarrhea	OMIM:620310
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ...	OMIM:603860
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Amyloidosis, Hereditary, Transthyretin-Related	Diarrhea, Episodic vomiting, Constipation	OMIM:105210
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Reynolds Syndrome	Arthritis, Skin rash, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Gastroesophageal reflux, Abnormal peritoneum morpholog...	ORPHA:1764
Familial Glucocorticoid Deficiency	Anorexia, Diarrhea, Episodic abdominal pain, Vomiting, Constipation	ORPHA:361
19P13.13 Microdeletion Syndrome	Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, Vomiting, Feeding...	ORPHA:357001
Perry Syndrome	Hypotension	ORPHA:178509
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
New-Onset Refractory Status Epilepticus	Autoimmunity, Abnormal circulating interleukin concentration	ORPHA:363558
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting	OMIM:612780
Isolated Osteopoikilosis	Autoimmunity, Discoid lupus rash, Abnormality of the kidney	ORPHA:166119
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Constipation, Nephroc...	ORPHA:99880
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Gastroesophageal reflux, Diarrhea, Skin rash, Chronic mucocutaneous can...	OMIM:147060
Hartnup Disease	Skin rash, Infectious encephalitis	ORPHA:2116
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Specific Granule Deficiency 2	Intractable diarrhea	OMIM:617475
Somatostatinoma	Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Diarrhea, Lack of bow...	ORPHA:97283
Helix Syndrome	Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Xerostomia	OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria, Intrahepatic cholestasis	OMIM:619685
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, C...	ORPHA:309031
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ...	OMIM:219700
Aicardi-Goutières Syndrome	Panniculitis, Chronic lymphatic leukemia, Myositis, Arthritis, Neonatal alloimmune thrombocytopen...	ORPHA:51
Parathyroid Carcinoma	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Constipation, Nephroc...	ORPHA:143
Mercury Poisoning	Nausea, Interstitial pneumonitis, Episodic vomiting, Acute kidney injury	ORPHA:330021
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Steatorrhea, Malabsorption	ORPHA:3217
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea	ORPHA:100085
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Nephropathy	ORPHA:2318
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation	OMIM:608643
Glucagonoma	Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Stomatitis, Diarrhea,...	ORPHA:97280
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Joubert Syndrome With Renal Defect	Renal insufficiency, Nephropathy	ORPHA:220497
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Pheochromocytoma	Elevated urinary norepinephrine level, Renal artery stenosis, Proteinuria	OMIM:171300
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Anemia, Ke...	ORPHA:95455
Familial Hypoaldosteronism	Diarrhea, Nausea and vomiting, Feeding difficulties	ORPHA:427
Leukocyte Adhesion Deficiency Type Ii	Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia	ORPHA:99843
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Reduced pancreatic beta cells, Hepatomegaly, Renal insufficiency	OMIM:226980
Juvenile Polyposis Syndrome	Diarrhea, Abdominal pain, Hematochezia	OMIM:174900
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Feeding difficulties	OMIM:255120
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Multicystic kidne...	ORPHA:261265
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst	OMIM:613390
Cirrhosis, Familial	Cirrhosis, Jaundice, Fulminant hepatitis, Biliary cirrhosis, Micronodular cirrhosis	OMIM:215600
Carney Triad	Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Nausea and vomiting	ORPHA:139411
Sifrim-Hitz-Weiss Syndrome	Vesicoureteral reflux, Micropenis, Renal insufficiency	OMIM:617159
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis	ORPHA:96147
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Recurrent urinary tract infections, Abnormal hemoglobin, Cryptorchidism, Infectious encep...	ORPHA:847
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Grfoma	Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,...	ORPHA:97261
Incontinentia Pigmenti	Skin rash, Keratitis, Eosinophilia, Supernumerary nipple, Infectious encephalitis, Uveitis	ORPHA:464
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Aspiration pneumonia, Thrombocytopenia, Splenomegaly, Micron...	OMIM:301072
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Stage 5 chronic kidney disease	OMIM:613819
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Proteinuria, Recurrent otitis media	ORPHA:2728
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hypospadias, Gastroesophageal reflux, Renal cortical cysts, Recurrent aspiration pneumonia, Hyper...	ORPHA:397715
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomerulosclerosis, Elevated hemo...	OMIM:619127
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Monosomy 18Q	Decreased circulating IgA level, Micropenis	ORPHA:1600
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Cholestasis	OMIM:609015
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Cerebral Visual Impairment	Infectious encephalitis, Meningitis, Unusual CNS infection	ORPHA:447788
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Lysosomal Acid Lipase Deficiency	Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Hypotension, Hypovolemia, Pulmonary arter...	ORPHA:275761
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Shoulder dislocation...	ORPHA:404454
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Abnormal lymph node morphology, Decreased eosinophil count, Diarrhea, Lymphopenia, Leukocyt...	ORPHA:99889
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Polyuria, Medullary nephrocalcinosis	OMIM:300971
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Inflammatory abn...	ORPHA:26793
Monosomy 18P	Autoimmunity	ORPHA:1598
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Truncus Arteriosus	Cardiomegaly, Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy	ORPHA:3384
Orofaciodigital Syndrome Type 1	Chronic otitis media, Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Exocrine...	ORPHA:2750
Fructose-1,6-Bisphosphatase Deficiency	Diarrhea, Reye syndrome-like episodes, Vomiting	ORPHA:348
Myasthenia Gravis	Autoimmunity, Dysphagia, Thymoma	OMIM:254200
Phoar2-Enteropathy Syndrome	Secretory diarrhea	OMIM:614441
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Renal insufficiency, Hematochezia, Colitis	OMIM:203300
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic...	ORPHA:805
Primary Hyperoxaluria	Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Nephrocalcin...	ORPHA:416
Autoerythrocyte Sensitization Syndrome	Diarrhea, Nausea, Gastrointestinal hemorrhage, Vomiting	ORPHA:324636
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Vomiting	OMIM:610768
Uremic Pruritus	Abnormal circulating cytokine concentration, Inflammatory abnormality of the skin, Chronic kidney...	ORPHA:94059
Cushing Disease	Acne, Decreased eosinophil count, Leukocytosis, Lymphopenia, Increased urinary cortisol level, Re...	ORPHA:96253
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Hors...	ORPHA:96148
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Diarrhea, Vomiting, Episodic vomiting	OMIM:618321
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Vomiting, Constipation, Dysp...	ORPHA:2131
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Uric acid nephrolithiasis, Urolithiasis, Gout, Hyperuricosuria, Renal insufficiency	OMIM:300661
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Viss Syndrome	Gastroesophageal reflux, Increased circulating IgG level, Chronic diarrhea, Chronic gastritis, In...	OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Intermittent diarrhea, Feeding difficulties, Constipation	OMIM:618050
Neuroblastoma, Susceptibility To, 1	Diarrhea, Abdominal pain	OMIM:256700
Serotonin Syndrome	Diarrhea, Nausea, Hepatic failure	ORPHA:43116
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Houge-Janssens Syndrome 1	Chronic diarrhea	OMIM:616355
Okur-Chung Neurodevelopmental Syndrome	Constipation, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ci...	OMIM:617062
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypercalciuria, Impaired renal c...	ORPHA:89938
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome...	ORPHA:77293
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Late-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556037
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Maternal Uniparental Disomy Of Chromosome 2	Renal dysplasia, Chordee, Renal insufficiency, Hypospadias	ORPHA:96179
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Increased red blood cell count, Granuloma, Sinusitis, Pustule, Pneumonia,...	ORPHA:68
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Elevated urinary gly...	OMIM:259900
Localized Scleroderma	Abnormality of the kidney, Gastroesophageal reflux, Arthritis, Esophagitis, Hashimoto thyroiditis...	ORPHA:90289
Mitochondrial Complex I Deficiency, Nuclear Type 29	Vomiting, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Occipital Horn Syndrome	Cholestasis, Jaundice, Hepatitis, Esophagitis	ORPHA:198
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren...	ORPHA:391641
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Enamel-Renal Syndrome	Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure...	ORPHA:1031
Autoimmune Polyendocrinopathy Type 1	Autoimmunity	ORPHA:3453
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficiency	OMIM:614227
Early-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556030
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent upper respirato...	OMIM:253200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Aspiration pneumonia, Decreased beta-galactosidase activity	ORPHA:79255
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Oral-pharyngeal dysphagia, Ketonuria	OMIM:616878
Isolated Permanent Neonatal Diabetes Mellitus	Renal tubular dysfunction, Pancreatic hypoplasia, Abnormality of the upper urinary tract, Glycosu...	ORPHA:99885
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Chronic diarrhea, Poor suck, Chronic constipation, Feeding difficulties ...	ORPHA:500055
Chops Syndrome	Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia	OMIM:616368
Acute Transverse Myelitis	Urinary incontinence, Gastroparesis, Urinary bladder sphincter dysfunction, Constipation, Abscess...	ORPHA:139417
Antisynthetase Syndrome	Myocarditis, Keratoconjunctivitis sicca, Myositis, Arthritis, Skin rash, Dysphagia, Autoimmunity,...	ORPHA:81
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Acute pancreatitis, Nephrolithiasis, Elevated hemoglobin A1c, Splenomega...	OMIM:269700
Pituitary Apoplexy	Hypertension, Hypotension, Normochromic anemia	ORPHA:95613
Plague	Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthrit...	ORPHA:707
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Turcot Syndrome With Polyposis	Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Hematochezia	ORPHA:99818
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary cirrhosis, Prolonged neonatal ja...	OMIM:619534
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Abnormal circulating enzyme concentration or activity, Hepatosplenomegaly, Otitis m...	ORPHA:309282
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Secretory diarrhea	OMIM:270420
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination	ORPHA:442835
Citrullinemia Type Ii	Diarrhea, Vomiting	ORPHA:247585
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Mucopolysaccharidosis Type 3	Chronic otitis media, Hepatomegaly, Adenoiditis, Recurrent tonsillitis, Aspiration pneumonia, Res...	ORPHA:581
Mitchell-Riley Syndrome	Diarrhea, Malabsorption	OMIM:615710
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea	OMIM:300953
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts	OMIM:311200
Familial Gestational Hyperthyroidism	Diarrhea	ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4	Anemia, Abnormality of humoral immunity, Tooth abscess, Recurrent aspiration pneumonia, Dysphagia...	ORPHA:642
Bardet-Biedl Syndrome 20	Pancreatitis, Proteinuria, Micropenis	OMIM:619471
Velocardiofacial Syndrome	Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Hypoparathyroidism, Impaired T...	OMIM:192430
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Hematochezia, Intestinal bleeding	ORPHA:79076
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Fat malabsorption, Malnutrition	ORPHA:96180
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Diarrhea, Episodic vomiting	OMIM:246450
Ectodermal Dysplasia And Immunodeficiency 2	Chronic diarrhea, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Splenomegaly	OMIM:612132
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Renal insufficiency, Horseshoe kidney	ORPHA:140952
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Dysphagia, Chronic kidney disease	ORPHA:25
Exstrophy-Epispadias Complex	Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen...	ORPHA:322
Pierson Syndrome	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kidneys, Stage 5 chr...	OMIM:609049
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Cranioectodermal Dysplasia 1	Hepatomegaly, Hepatic fibrosis, Stage 1 chronic kidney disease, Renal magnesium wasting, Chronic ...	OMIM:218330
Infantile Systemic Hyalinosis	Chronic diarrhea, Steatorrhea, Malabsorption, Feeding difficulties	ORPHA:2176
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Constipation, Hyperphosphaturia, Renal Fanconi ...	OMIM:309000
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Maculopapular exanthema, Arthritis, Skin rash, Synovit...	ORPHA:324625
Poliomyelitis	Meningitis, Myelitis, Infectious encephalitis	ORPHA:2912
Shwachman-Diamond Syndrome 2	Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:617941
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular v...	ORPHA:97214
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Bone-marrow foam cells, Aspiration pneumonia, Abnormal lung morphology, L...	ORPHA:646
Zollinger-Ellison Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Episodic abdominal pain, Esophagit...	ORPHA:913
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Abnormal CNS myelination, Hammertoe, Pancreatitis, Splenic cyst, Tracheomalacia, Gliosis, Abnorma...	OMIM:620371
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis	OMIM:617994
Incontinentia Pigmenti	Leukocytosis, Keratitis, Eosinophilia, Maculopapular exanthema, Uveitis	OMIM:308300
Developmental And Epileptic Encephalopathy 50	Diarrhea, Dysphagia	OMIM:616457
Chronic Thromboembolic Pulmonary Hypertension	Lupus anticoagulant, Antiphospholipid antibody positivity, Myeloproliferative disorder, Inflammat...	ORPHA:70591
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea	ORPHA:424
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia	OMIM:619167
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral steno...	ORPHA:904
Acrodermatitis Enteropathica	Anorexia, Chronic diarrhea, Poor appetite, Malabsorption	ORPHA:37
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Acute hepatic failure, Hep...	OMIM:256810
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Vomiting	ORPHA:230
Congenital Tracheomalacia	Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous...	ORPHA:95430
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Impaired T cell function, Allergic rhinitis	OMIM:176690
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Astrocytosis, Splenomegaly, Abnormal myelination	ORPHA:309854
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic hemangioma, Recurrent aspiration...	ORPHA:73230
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Ascites, Autoimmune antibody pos...	ORPHA:75565
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Hypotension	ORPHA:91349
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis	OMIM:301220
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Jaundice, Decreased circulating cortisol level	ORPHA:90790
Mucopolysaccharidosis, Type Iiid	Diarrhea, Dysphagia, Tube feeding	OMIM:252940
Alagille Syndrome 1	Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Hepatocellular carcinoma, Choles...	OMIM:118450
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism...	OMIM:620186
Trichinellosis	Skin rash, Increased circulating IgE level, Nausea, Dysphagia, Conjunctivitis	ORPHA:863
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Chronic diarrhea, Absent gallbladder, Horseshoe kidney	OMIM:617140
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Antinuclear antibody positiv...	ORPHA:85436
Cerebrotendinous Xanthomatosis	Diarrhea, Pseudobulbar paralysis	OMIM:213700
Au-Kline Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Constipation, Hydronephrosis, Chronic kidney dise...	OMIM:616580
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Scorpion Envenomation	Myocarditis, Acute kidney injury, Diarrhea, Acute pancreatitis, Vomiting, Glycosuria, Ketonuria	ORPHA:466677
Pemphigus Foliaceus	Autoimmunity	ORPHA:79481
Sandhoff Disease	Chronic diarrhea, Episodic abdominal pain	OMIM:268800
Reactive Arthritis	Diarrhea, Abdominal pain, Recurrent aphthous stomatitis, Inflammation of the large intestine	ORPHA:29207
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Scalp-Ear-Nipple Syndrome	Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis	OMIM:181270
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Chronic diarrhea, Malabsorption	OMIM:601675
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Tooth abscess, Hyperphosphaturia, Enthesitis, Abnormality of renal excre...	ORPHA:289176
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Glossopharyngeal Neuralgia	Autoimmunity	ORPHA:221098
Calciphylaxis	Stage 5 chronic kidney disease	ORPHA:280062
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Autoimmunity	ORPHA:449291
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Dysphagia, Feeding difficulties	OMIM:620358
Ehlers-Danlos Syndrome, Periodontal Type, 1	Autoimmunity	OMIM:130080
Multiple Endocrine Neoplasia, Type Iib	Diarrhea, Constipation	OMIM:162300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Melena, Bloody diarrhea, Hematochezia	ORPHA:464321
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Congenital finger flexion contractures, Atopic dermatitis, Mixed demyelinating and axonal polyneu...	ORPHA:466768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Dysphagia	OMIM:606002
Extracranial Carotid Artery Aneurysm	Autoimmunity	ORPHA:494424
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Gastrointestinal inflammation, Pyoderma, Anemia, Pneumonia, Recurrent skin infections	ORPHA:79404
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Pearson Marrow-Pancreas Syndrome	Anorexia, Steatorrhea, Chronic diarrhea, Vomiting, Exocrine pancreatic insufficiency, Malabsorpti...	OMIM:557000
Farber Disease	Chronic diarrhea, Feeding difficulties, Hepatic failure	ORPHA:333
Williams-Beuren Syndrome	Recurrent otitis media, Gastroesophageal reflux, Renal insufficiency, Hypercalciuria, Abnormal re...	OMIM:194050
Multiple Endocrine Neoplasia, Type I	Diarrhea, Esophagitis	OMIM:131100
Sotos Syndrome	Chronic otitis media, Abnormality of the kidney, Ureteral duplication, Hypospadias, Gastroesophag...	ORPHA:821
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Gastroesophageal reflux, Chronic diarrhea, Exocrine pancre...	OMIM:618268
Cysticercosis	Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo...	ORPHA:1560
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Chronic diarrhea	ORPHA:457279
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Rat-Bite Fever	Diarrhea, Parotitis, Vomiting	ORPHA:31205
Costello Syndrome	Lymphangiectasis, Renal insufficiency	OMIM:218040
Mednik Syndrome	Diarrhea	OMIM:609313
Alg9-Cdg	Diarrhea, Vomiting, Gastroesophageal reflux	ORPHA:79328
Lipodystrophy, Familial Partial, Type 7	Polyuria, Diarrhea, Vomiting, Dysphagia, Recurrent pancreatitis	OMIM:606721
Rothmund-Thomson Syndrome Type 1	Diarrhea, Nasogastric tube feeding, Vomiting, Functional abnormality of the gastrointestinal tract	ORPHA:221008
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph...	OMIM:211900
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Vipoma	Anorexia, Episodic abdominal pain, Abnormal gastrointestinal motility, Poor appetite, Secretory d...	ORPHA:97282
Neuroblastoma	Abdominal distention, Chronic diarrhea	ORPHA:635
Alexander Disease	Infectious encephalitis	ORPHA:58
Cranioectodermal Dysplasia 3	Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Tay-Sachs Disease	Aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:845
Multiple Endocrine Neoplasia Type 1	Hematemesis, Anorexia, Melena, Gastroesophageal reflux, Diarrhea, Abdominal pain, Vomiting, Nause...	ORPHA:652
Rothmund-Thomson Syndrome	Diarrhea, Nasogastric tube feeding in infancy, Vomiting	ORPHA:2909
Sapho Syndrome	Steatorrhea, Chronic diarrhea, Abdominal pain, Inflammation of the large intestine, Malabsorption	ORPHA:793
Rothmund-Thomson Syndrome Type 2	Diarrhea, Nasogastric tube feeding, Vomiting, Functional abnormality of the gastrointestinal tract	ORPHA:221016
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Arthritis, Skin rash, Constipation, Pericarditis, Dysphagi...	ORPHA:93672
Peutz-Jeghers Syndrome	Abdominal pain, Bloody diarrhea, Intestinal bleeding	OMIM:175200
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Aspiration pneumonia, Vom...	ORPHA:79318
Bardet-Biedl Syndrome	Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Inflammation ...	ORPHA:110
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Constipation, Encopresis, Proteinuria, Gastroesophageal reflux	OMIM:616682
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr...	OMIM:614527
Dyskeratosis Congenita, Autosomal Dominant 2	Chronic diarrhea	OMIM:613989
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Ogden Syndrome	Tube feeding, Diarrhea, Vomiting, Feeding difficulties, Dysphagia	OMIM:300855
Deeah Syndrome	Chronic diarrhea, Exocrine pancreatic insufficiency, Malabsorption, Dysphagia, Chronic constipation	OMIM:619004
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections	OMIM:602535
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic diarrhea, Chronic constipation	OMIM:619005
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Chronic Graft Versus Host Disease	Anorexia, Abnormal esophagus physiology, Gastroesophageal reflux, Diarrhea, Abdominal pain, Nause...	ORPHA:99921
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Recurrent lower respiratory tract infectio...	ORPHA:293987
Omphalocele Syndrome, Shprintzen-Goldberg Type	Chronic diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux	ORPHA:3164
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Rena...	ORPHA:99413
Multiple Endocrine Neoplasia Type 2	Diarrhea, Abdominal distention, Constipation	ORPHA:653
Diamond-Blackfan Anemia 21	Chronic diarrhea	OMIM:620072
Mosaic Monosomy X	Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Rena...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Rena...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Cholestatic liver disease, Cirrhosis, Recurrent otitis media, Rena...	ORPHA:881
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis, Periodontitis	OMIM:619269
Hurler Syndrome	Chronic diarrhea, Feeding difficulties	ORPHA:93473
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Decreased sweating due to autonomic dysfunction, Aspiration pneumonia	ORPHA:99027
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Poor appetite, Gastrointestinal hemorrhage, Diarrhea	ORPHA:247598
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Townes-Brocks Syndrome	Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu...	ORPHA:857
Cornelia De Lange Syndrome	Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficiency, Vesicoureteral re...	ORPHA:199
Abetalipoproteinemia	Vomiting, Chronic diarrhea, Steatorrhea, Fat malabsorption	ORPHA:14
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Diarrhea, Constipation, Nasogastric tub...	ORPHA:273
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, Constipation, Dysphagia, Feeding di...	OMIM:615873
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypotension, Arrhythmia	ORPHA:428
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea	OMIM:116920
Multiple Endocrine Neoplasia Type 4	Diarrhea, Esophagitis, Episodic abdominal pain	ORPHA:276152
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Neurooculorenal Syndrome	Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen...	OMIM:620305
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension	ORPHA:90791
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Moderate albuminuria	OMIM:614231
Dubowitz Syndrome	Chronic diarrhea, Malabsorption	ORPHA:235
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Neoplasm of the thymu...	ORPHA:744
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Townes-Brocks Syndrome 1	Hypospadias, Gastroesophageal reflux, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasi...	OMIM:107480
Immunodeficiency 87 And Autoimmunity	Necrotizing enterocolitis, Secretory diarrhea, Feeding difficulties, Atrophic gastritis, Hepatic ...	OMIM:619573
Prolactinoma	Hypotension	ORPHA:2965
Coffin-Siris Syndrome	Hepatoblastoma, Aspiration pneumonia, Recurrent upper respiratory tract infections	ORPHA:1465
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr...	ORPHA:91347
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Bloody diarrhea	ORPHA:294023
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia	OMIM:247200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Aspiration pneumonia	ORPHA:444077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia	ORPHA:280633
Floating-Harbor Syndrome	Hypospadias, Gastroesophageal reflux, Polycystic kidney dysplasia, Renal cyst, Constipation, Rena...	ORPHA:2044
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothyroidism, Increased circulating prolactin concentration, Anemia, Aspiration pneumonia	ORPHA:438213
Doors Syndrome	Thrombocytosis, Aspiration pneumonia, Congenital hypothyroidism	ORPHA:79500
Kabuki Syndrome 1	Recurrent otitis media, Congenital hypothyroidism, Recurrent aspiration pneumonia, Autoimmune thr...	OMIM:147920
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent aspiration pneumonia, Conjunctivitis, Rec...	OMIM:616268
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353281
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Hypovolemia	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Hypovolemia	ORPHA:289548
Nmda Receptor Encephalitis	Diarrhea, Vomiting	ORPHA:217253
Cerebrotendinous Xanthomatosis	Chronic diarrhea	ORPHA:909
Semilobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:220386
Alobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93924
Juvenile Polyposis Syndrome	Diarrhea, Abdominal pain, Gastrointestinal hemorrhage, Hematochezia	ORPHA:2929
Loeys-Dietz Syndrome 6	Knee osteoarthritis, Autoimmunity, Hip osteoarthritis, Osteoarthritis	OMIM:619656
Nijmegen Breakage Syndrome	Chronic diarrhea	ORPHA:647
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353277
Orofaciodigital Syndrome Type 14	Deviation of the hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Broad hall...	ORPHA:434179
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Gastroesophageal reflux, Chronic diarrhea, Dysphagia, Gastrointestinal dysmotility...	ORPHA:500150
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Occipital Horn Syndrome	Chronic diarrhea	OMIM:304150
Mucopolysaccharidosis Type 2, Severe Form	Chronic diarrhea	ORPHA:217085
Mucopolysaccharidosis Type 2	Chronic diarrhea	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Chronic diarrhea	ORPHA:217093
Fontaine Progeroid Syndrome	Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia	OMIM:612289
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intermittent diarrhea, Exocrine pancreatic insufficiency, Feeding difficulties	ORPHA:2255
Ectodermal Dysplasia-Skin Fragility Syndrome	Chronic diarrhea	ORPHA:158668
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Hypovolemia, Shock	ORPHA:90794
Aspartylglucosaminuria	Diarrhea	OMIM:208400
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Yunis-Varon Syndrome	Aspiration pneumonia	OMIM:216340

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 Ptprc

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 Ptprc.

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

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
Ptprc^{tm1a(EUCOMM)Hmgu}	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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