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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 (2049 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 105		Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924

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

Disease	Matching phenotypes	Source
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Lactose Intolerance, Adult Type	Lactose intolerance, Abdominal pain, Diarrhea, Flatulence	OMIM:223100
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency 48	Panhypogammaglobulinemia, Recurrent candida infections, Abnormal B cell count, Splenomegaly, Impa...	OMIM:269840
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim...	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	Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre...	OMIM:612783
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria...	ORPHA:169079
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Au...	OMIM:618495
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Complement Component 8 Deficiency, Type I	Decreased circulating complement C8 concentration, Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne...	ORPHA:277
Immunodeficiency 27A	Pneumonia, Diarrhea, Rheumatoid factor positive, Increased circulating IgG level, Hepatosplenomeg...	OMIM:209950
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Anti-glutamic acid decarboxyla...	OMIM:304790
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa...	OMIM:308230
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ...	OMIM:614470
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Sting-Associated Vasculopathy, Infantile-Onset	Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperp...	OMIM:615934
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro...	OMIM:613101
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Pu...	OMIM:617388
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ele...	OMIM:260920
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp...	ORPHA:2134
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr...	OMIM:615767
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis	ORPHA:60026
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt...	ORPHA:859
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, ...	OMIM:620565
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Reduced circulating complement con...	ORPHA:567544
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, Co...	OMIM:616098
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, In...	OMIM:617099
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulatin...	ORPHA:79087
Boutonneuse Fever	Diarrhea, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Maculopapular exa...	ORPHA:83313
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe...	OMIM:620632
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Rheumatoid facto...	ORPHA:91139
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Mac...	OMIM:619644
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop...	OMIM:618394
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Bronchiolitis obliterans...	OMIM:300755
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Sepsis In Premature Infants	Oliguria, Diarrhea, Vomiting, Increased circulating interleukin 6 concentration, Leukocytosis, Sp...	ORPHA:90051
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Systemic Capillary Leak Syndrome	Diarrhea, Oliguria, Leukocytosis, Renal insufficiency, Abnormal renal tubule morphology, Pancreat...	ORPHA:188
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urin...	ORPHA:93552
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Chronic mucocu...	ORPHA:572
Complement Component C1S Deficiency	Hashimoto thyroiditis, Abnormality of complement system, Systemic lupus erythematosus	OMIM:613783
Complement Component C1R/C1S Deficiency	Reduced circulating complement concentration, Autoimmunity, Nephritis	OMIM:216950
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Immunodeficiency 32B	Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ...	OMIM:226990
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Multiple Myeloma	Nephropathy, Acute kidney injury, Decreased circulating antibody level, Splenomegaly, Increased c...	ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi...	ORPHA:99931
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne...	ORPHA:33110
Masp2 Deficiency	Reduced circulating complement concentration, Systemic lupus erythematosus	OMIM:613791
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran...	OMIM:618999
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased urinary urate, Decreased lymphocyte proliferation in response to mitogen, Im...	OMIM:613179
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Skin rash, Abnormality o...	ORPHA:47
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia	OMIM:620400
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h...	ORPHA:1830
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive ...	OMIM:301000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr...	ORPHA:83471
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm...	OMIM:616050
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hematuria, Acute tubulointerstitial nephritis, Glomerulonephrit...	ORPHA:340
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Diarrhea, Oliguria, Uveitis, Autoimmunity, Renal insufficiency, Epis...	ORPHA:727
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre...	OMIM:193670
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, Abnormal proportion ...	ORPHA:217260
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 23	Allergic rhinitis, Rheumatoid factor positive, Eczematoid dermatitis, Chronic mucocutaneous candi...	OMIM:615816
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Jessner Lymphocytic Infiltration Of The Skin	Abnormal lymphocyte morphology	ORPHA:33314
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Lassa Fever	Diarrhea, Oliguria, Conjunctivitis, Jaundice, Increased circulating IgM level, Dysphagia	ORPHA:99824
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abnormal circulating chemokine concentration, Acute kidney injury, Anuria, Nephrotic ra...	ORPHA:544482
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea	OMIM:610370
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp...	ORPHA:90060
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Splenic cyst, Abscess, Hepatic cysts, Increased ci...	ORPHA:400
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Diarrhea 9	Diarrhea	OMIM:618168
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Lujo Hemorrhagic Fever	Oliguria, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Skin ra...	ORPHA:319213
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Angiostrongyliasis	Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Constipation, Increased...	ORPHA:74
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Selective Igm Deficiency	Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,...	ORPHA:331235
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Cheilitis, Anti-La/SS-B antibody positivi...	ORPHA:536
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea	ORPHA:103907
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circul...	ORPHA:470
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating interleukin 6 concentration, Cervical lymphadenopathy, Hematuria...	OMIM:614034
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe...	ORPHA:2688
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain	ORPHA:160148
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,...	OMIM:301078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Diarrhea, Anuria, M...	OMIM:235400
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno...	OMIM:215250
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti...	ORPHA:1572
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat...	OMIM:618935
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased...	ORPHA:158061
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Decreased circulating complement factor B concentration, Biliary cirrhosis,...	ORPHA:2298
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea	OMIM:223000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Nephrosialidosis	Nephropathy, Ascites, Renal insufficiency, Nephrotic syndrome, Bone-marrow foam cells	OMIM:256150
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody posit...	OMIM:620376
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:613913
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficienc...	ORPHA:36412
Rabies	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:770
Alopecia Areata 1	Autoimmunity	OMIM:104000
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, In...	ORPHA:549
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A...	ORPHA:229717
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody p...	ORPHA:79078
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym...	OMIM:617780
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit...	OMIM:243150
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy...	ORPHA:54057
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomegaly, Cryoglo...	ORPHA:91138
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Papa Syndrome	Increased circulating antibody level, Proteinuria, Increased inflammatory response, Crohn's disea...	ORPHA:69126
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemol...	OMIM:615387
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Hepatomegaly...	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm...	ORPHA:49041
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating ...	ORPHA:449432
Cold Agglutinin Disease	Diarrhea, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemo...	ORPHA:56425
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Brunner Syndrome	Diarrhea	OMIM:300615
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Colchicine Poisoning	Diarrhea, Vomiting, Oliguria, Leukocytosis, Renal insufficiency, Myocarditis, Nausea	ORPHA:31824
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Increased...	OMIM:170100
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea...	OMIM:603278
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Ascites, Decreased circulating Ig...	OMIM:615758
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Autoimmunity, Portal hypertension, Splen...	ORPHA:186
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Xerostomia, Gastroesophageal reflux, Autoimmunity, Renal insufficiency, Arthritis, Dysp...	ORPHA:220393
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Galactosemia Iii	Aminoaciduria, Galactosuria, Vomiting, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M...	ORPHA:99845
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Acute colitis...	ORPHA:90038
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Coproporphyria, Hereditary	Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Spl...	OMIM:121300
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hemolytic anemia, Normochromic anemia	OMIM:245900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti...	OMIM:620045
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R...	OMIM:619381
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Abdominal adhesions, Increased circulating IgA level, Neutropenia	OMIM:616395
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Osteoporosis, Ma...	ORPHA:98848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Melioidosis	Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Parotitis, Hepatitis, Abnormalit...	ORPHA:31202
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri...	ORPHA:77297
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Endocarditis, Granuloma, ...	ORPHA:781
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Tafro Syndrome	Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Leukocytosis, Spl...	ORPHA:457077
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Cholestatic liver disease, Abnormal tubulointerstitial morph...	OMIM:602114
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi...	ORPHA:540
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Autoimmunity...	ORPHA:275555
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Dominant Beta-Thalassemia	Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Methylmalonic aciduria, Pancytopenia, Decrea...	OMIM:275350
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Spleno...	ORPHA:905
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity	ORPHA:98827
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Thrombo...	OMIM:603552
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neona...	ORPHA:499009
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Pelizaeus-Merzbacher Disease	CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Abnormal CNS myel...	OMIM:312080
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Harderoporphyria	Vomiting, Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomega...	OMIM:618892
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:606528
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Recurrent pneumonia, ...	OMIM:617303
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo...	ORPHA:169105
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Dark urine, Hepatic steatosis, P...	ORPHA:79303
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Beta-Thalassemia Major	Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231214
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Chronic constipation, Episodic abdominal pain, Abdominal pain, Intermitte...	ORPHA:209964
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Crescentic glomerulonephritis, Mesangial hypercellularity, Arthr...	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	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie...	ORPHA:36234
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Lymphedema, Primary, With Myelodysplasia	Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Yellow Fever	Acute kidney injury, Diarrhea, Vomiting, Anuria, Pancreatic hyperplasia, Leukocytosis, Renal insu...	ORPHA:99829
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splenomegaly, Portal hyp...	OMIM:613385
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph...	ORPHA:90362
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu...	ORPHA:723
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Decreased circulating ...	OMIM:609814
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neu...	ORPHA:289916
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Pleural effusion, Skin rash, Leukocytosis, I...	ORPHA:292
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Castleman Disease	Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Fol...	ORPHA:160
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:607765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616910
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency	ORPHA:28
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ...	OMIM:614376
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Chronic constipation, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, ...	OMIM:619428
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice...	ORPHA:60
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lymphopenia, Stage 5 ch...	OMIM:617575
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Hepatomegal...	OMIM:617591
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Oliguria, Dicarboxylic aciduria	ORPHA:159
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Diarrhea, Monoclonal immunoglobulin M proteinemia...	ORPHA:33226
Lesch-Nyhan Syndrome	Anemia, Hematuria, Gout, Renal insufficiency	ORPHA:510
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Abnormality of the kidney, Increased circulating IgG...	ORPHA:284227
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho...	OMIM:613490
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ...	OMIM:613845
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Abdominal colic	OMIM:615863
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ...	OMIM:608233
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr...	OMIM:256040
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Vomiting, Cholestasi...	ORPHA:85445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea	OMIM:251850
Galactosemia I	Aminoaciduria, Galactosuria, Diarrhea, Vomiting, Reduced erythrocyte galactose-1-phosphate uridyl...	OMIM:230400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Leukocytosis, Renal insufficiency, Conjunctivit...	OMIM:191900
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinu...	OMIM:618882
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ...	ORPHA:133
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis...	OMIM:610377
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Enterokinase Deficiency	Diarrhea	OMIM:226200
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia,...	ORPHA:27
Inflammatory Bowel Disease (Crohn Disease) 30	Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea	OMIM:619079
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro...	OMIM:617056
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocytosis, Pus...	ORPHA:293173
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena...	OMIM:615993
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:90033
Hirschsprung Disease	Diarrhea, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal o...	ORPHA:388
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Gliosis	OMIM:125700
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp...	ORPHA:486
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia...	OMIM:301110
Enteric Anendocrinosis	Vomiting, Diarrhea, Malabsorption	ORPHA:83620
Al Amyloidosis	Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the l...	ORPHA:85443
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Diarrhea 13	Vomiting, Secretory diarrhea	OMIM:620357
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Gastrointesti...	ORPHA:64743
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto...	ORPHA:35858
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,...	OMIM:258900
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Scrub Typhus	Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Diarrhea, Vomiting, Abnormal circulating interleukin concentration, Increase...	ORPHA:542323
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatic fibrosis, Acute pancreatitis, Recurrent urinary t...	OMIM:619487
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity	ORPHA:2902
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Wolman Disease	Hepatomegaly, Adrenal calcification, Splenomegaly	OMIM:620151
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hypohidrosis, Hepatitis	ORPHA:363523
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Leukopenia, Leukocyto...	ORPHA:91547
Inflammatory Pseudotumor Of The Liver	Vomiting, Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the ...	ORPHA:90003
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Clinodactyly of the 5th finger, Short foot, Joint contracture of the 5th ...	OMIM:248910
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abn...	ORPHA:54251
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu...	ORPHA:228123
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Aggressive Systemic Mastocytosis	Pathologic fracture, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, ...	ORPHA:98850
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Autoimmunity, Renal insufficiency, Skin rash, Intestinal obstruction, He...	ORPHA:183
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte...	ORPHA:228426
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Increased circulating cortisol level, Abn...	ORPHA:139507
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s...	OMIM:614576
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal h...	ORPHA:809
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac...	ORPHA:2494
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom...	OMIM:616084
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,...	OMIM:615846
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Cryoglobulinemia, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Proteinuria, Glomerular sclerosis, Recurrent my...	OMIM:607426
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Hereditary Folate Malabsorption	Cheilitis, Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Pancytopenia, E...	ORPHA:90045
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Eosinophilic infil...	OMIM:618213
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom...	OMIM:301108
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis	ORPHA:42642
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA...	ORPHA:1855
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ...	OMIM:612541
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia	OMIM:617341
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Drug-Induced Lupus Erythematosus	Malar rash, Hematuria, Lupus anticoagulant, Antinuclear antibody positivity, Decreased circulatin...	ORPHA:231111
Hemochromatosis, Type 2B	Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting	ORPHA:30925
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Diarrhea, Erysipelas, Ascites, Leukocytosis, Splenomegaly, Intesti...	ORPHA:342
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Renal insufficiency	ORPHA:454
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Conjunctivitis, Heparan sulfate exc...	ORPHA:505248
Microlissencephaly	Pneumonia	ORPHA:1083
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Feeding difficulties	OMIM:620270
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Hepatom...	ORPHA:77261
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple...	ORPHA:575
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Primary adrenal insufficiency, Hashimoto thyroiditis, Myositis, ...	ORPHA:589
Linear Iga Dermatosis	Renal neoplasm, Autoimmunity	ORPHA:46488
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ...	ORPHA:293978
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, H...	ORPHA:436271
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Constipation, Polyu...	OMIM:239200
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio...	ORPHA:284
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumat...	ORPHA:85414
Vascular Hyalinosis	Hematochezia, Diarrhea, Malabsorption	OMIM:277175
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention	OMIM:619445
Paroxysmal Cold Hemoglobinuria	Diarrhea, Abnormal urinary color, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, ...	ORPHA:90035
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb...	ORPHA:238459
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic...	ORPHA:98849
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie...	ORPHA:445038
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple...	ORPHA:228119
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Vomiting, Imbalanced hemoglobin synthesi...	ORPHA:330015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo...	OMIM:618131
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Fabry Disease	Diarrhea, Lipiduria, Vomiting, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, An...	OMIM:301500
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Vomiting, Oliguria, Thrombocytopenia, Nausea	ORPHA:466650
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr...	OMIM:615237
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemo...	ORPHA:760
Systemic Lupus Erythematosus, Susceptibility To, 6	Antinuclear antibody positivity, Systemic lupus erythematosus, Abnormality of the kidney, Abnorma...	OMIM:609939
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea	ORPHA:309108
Maculopapular Cutaneous Mastocytosis	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79457
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Abnormal myelination, Increased skull ossification	ORPHA:85179
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Xq28 (MECP2) duplication	Gastroesophageal reflux, Functional abnormality of the bladder, Decreased circulating IgA level, ...	DECIPHER:45
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Bloody mucoid diarrhea, Acut...	ORPHA:810
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain	OMIM:248360
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition	OMIM:619971
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia...	OMIM:274150
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R...	OMIM:613673
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Ascites, R...	OMIM:276700
Hepatic Veno-Occlusive Disease	Ascites, Hepatomegaly, Jaundice, Renal insufficiency	ORPHA:890
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Dracunculiasis	Diarrhea, Nausea and vomiting	ORPHA:231
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no...	OMIM:612387
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Chylomicron Retention Disease	Diarrhea, Steatorrhea, Vomiting, Malnutrition	OMIM:246700
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Microcyt...	OMIM:619525
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Malar rash, Splenomegaly, Skin rash, Hep...	ORPHA:398124
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As...	ORPHA:567546
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Increased hepatic glycogen content, Proteinuria, Cirrhosis, Ab...	ORPHA:369
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Portal fibrosis, Cholestasis, Renal tubular acidosis, Splen...	ORPHA:264580
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting	OMIM:620137
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Decreased circulating IgG level, Proximal tubulopathy, Diarrhea, Vomiting, Decr...	OMIM:212065
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Decreased circ...	OMIM:605309
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anem...	OMIM:615234
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec...	OMIM:615577
Sialidosis Type 2	Nephropathy, Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Familial Mediterranean Fever	Renal amyloidosis, Diarrhea, Vomiting, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal...	OMIM:208540
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis	ORPHA:930
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Immunodeficiency 31C	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu...	OMIM:614162
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema	ORPHA:157991
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea	OMIM:613217
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria	OMIM:222100
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Niemann-Pick Disease, Type A	Vomiting, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Constip...	OMIM:257200
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi...	OMIM:620321
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle...	ORPHA:449563
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegal...	ORPHA:99827
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Renal tubular acidosis, Splenomegaly, Hepatomegaly, Myoglob...	ORPHA:79240
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Wolcott-Rallison Syndrome	Chronic kidney disease, Exocrine pancreatic insufficiency, Ascites, Abnormality of the liver, Ren...	ORPHA:1667
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Pseudo-Torch Syndrome 1	Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice	OMIM:251290
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Decreased circula...	OMIM:620005
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Renal insufficiency	ORPHA:281090
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kid...	OMIM:613550
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic...	ORPHA:169090
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Gastroesophageal re...	ORPHA:125
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Renal insufficiency, Hypochromic microcytic anemia, Anemia, Mild proteinuria	OMIM:619147
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity	OMIM:270150
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Chronic con...	ORPHA:79330
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Aminoaciduria, Bet...	ORPHA:91500
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormality of the spleen, Abnormality of the li...	ORPHA:79456
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglo...	OMIM:232800
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90036
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Lymphadenopathy, A...	ORPHA:1451
Cardiogenic Shock	Hepatomegaly, Oliguria	ORPHA:97292
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Renal insufficiency, Hepatic steatosis, Pancreatitis, Lacticaciduria	OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Hepatomegal...	OMIM:220110
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En...	ORPHA:73263
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hepatomeg...	OMIM:251000
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Abdominal distention	ORPHA:103910
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Immunodeficiency 88	Eosinophilia	OMIM:619630
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100082
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Wolman Disease	Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu...	OMIM:277400
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor...	ORPHA:99828
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hemolytic anemia	ORPHA:57
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:214950
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti...	OMIM:612714
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Vomiting, Decreased circulating IgG1 level, Lymphopenia, Decreased circulati...	ORPHA:90363
Retinitis Pigmentosa 59	Micropenis, Hepatomegaly, Renal insufficiency	OMIM:613861
Hellp Syndrome	Acute kidney injury, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, ...	ORPHA:244242
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype...	ORPHA:447
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Mucopolysaccharidosis Type 7	Splenomegaly, Abnormal pleura morphology, Hepatitis, Recurrent respiratory infections	ORPHA:584
American Trypanosomiasis	Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Achalasia, Lymphadenopathy, Myocardit...	ORPHA:3386
Subacute Cutaneous Lupus Erythematosus	Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Anti-histone antibody positivit...	ORPHA:163525
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl...	OMIM:613404
Eosinophilic Gastroenteritis	Allergic rhinitis, Hematochezia, Atopic dermatitis, Diarrhea, Vomiting, Ascites, Leukocytosis, Eo...	ORPHA:2070
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h...	OMIM:278000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Adrenal insufficiency, Pri...	OMIM:240300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R...	OMIM:617718
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculatu...	ORPHA:247691
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections	OMIM:617744
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi...	ORPHA:398063
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi...	OMIM:263400
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Dysphagia, Hypoplastic spleen, Abnorm...	ORPHA:699
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de...	OMIM:615895
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea	OMIM:615399
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis	OMIM:214110
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis...	ORPHA:199299
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr...	ORPHA:3156
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Vomiting, Diarrhea, Feeding difficulties	OMIM:612075
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypotension, Hypertension	OMIM:611489
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Proteinuria, Glomerular sclerosis, Ab...	ORPHA:439232
Mccune-Albright Syndrome	Bone marrow hypocellularity, Increased circulating cortisol level, Increased circulating prolacti...	ORPHA:562
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Oroticaciduria, Leukopenia, ...	OMIM:222700
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Glutaric Aciduria Iii	Diarrhea, Vomiting	OMIM:231690
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Cystinosis	Nephropathy, Aminoaciduria, Vomiting, Renal insufficiency, Portal hypertension, Renal tubular dys...	ORPHA:213
Zika Virus Disease	Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm...	ORPHA:448237
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Microvesicular hepatic steato...	OMIM:619377
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Emphysema, Pancytopenia, Abnorm...	OMIM:181000
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse...	OMIM:256300
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk...	ORPHA:355
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria	OMIM:618347
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent...	OMIM:610199
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Sandhoff Disease, Juvenile Form	Diarrhea, Dysphagia, Constipation	ORPHA:309162
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C...	ORPHA:84085
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p...	ORPHA:18
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria	OMIM:143880
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Renal Tubular Dysgenesis	Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Displacement of the urethr...	ORPHA:2377
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency, Hepatic steatosis	OMIM:615996
Malakoplakia	Diarrhea, Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, ...	ORPHA:556
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotropin deficient ...	ORPHA:199296
Porphyria Variegata	Chronic kidney disease, Abnormality of the liver, Increased urinary porphobilinogen, Ileus, Porph...	ORPHA:79473
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Vo...	OMIM:308940
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Wilson Disease	Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Dysphagia, Increased urinary copper concent...	OMIM:277900
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Leukopenia, Autoimmunity, Antinuclear antibod...	ORPHA:206572
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus	OMIM:612526
Central Diabetes Insipidus	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:178029
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Kawasaki Disease	Hepatitis, Abnormal pulmonary interstitial morphology, Cervical lymphadenopathy, Thrombocytosis, ...	ORPHA:2331
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Chronic constipation, Proteinuria,...	ORPHA:261222
Pancreatoblastoma	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:677
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Refsum Disease	Renal insufficiency, Splenomegaly	ORPHA:773
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu...	OMIM:306400
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Jeune Syndrome	Nephropathy, Abnormality of the liver, Nephronophthisis, Renal insufficiency	ORPHA:474
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:1267
Celiac Disease, Susceptibility To, 1	Diarrhea, Vomiting, Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating I...	OMIM:212750
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia, Myoglobinuria	OMIM:255125
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Mucopolysaccharidosis, Type Iiib	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:252920
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level, Ileus, Hepatic steatosis, Splenomegaly, Con...	OMIM:613327
Cholera	Acute kidney injury, Diarrhea, Vomiting, Aspiration pneumonia, Decreased urine output, Abnormalit...	ORPHA:173
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Gastroesophageal reflux, Decreased circulating IgA level, Decrea...	OMIM:620040
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Agel Amyloidosis	Xerostomia, Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morphology, Keratoconjun...	ORPHA:85448
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr...	OMIM:232240
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Glycogen Storage Disease Ixb	Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Ethylene Glycol Poisoning	Vomiting, Renal insufficiency, Renal tubular dysfunction, Hematuria, Gastritis, Decreased urine o...	ORPHA:31826
Cog7-Cdg	Diarrhea, Feeding difficulties	ORPHA:79333
Wild Type Attr Amyloidosis	Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Hepatomegaly, Nephrotic syn...	ORPHA:330001
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Hepatomegaly, Decreased liver function	OMIM:238970
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Alg12-Cdg	Recurrent pneumonia, Gastroesophageal reflux, Abnormal circulating IgM level, Complete or near-co...	ORPHA:79324
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythroderma, A...	ORPHA:247353
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Diarrhea, Prolinuria, Hydroxyprolinuria, Renal...	ORPHA:79101
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia, Hepatomegaly	OMIM:251900
Aneurysm Of Sinus Of Valsalva	Bacterial endocarditis, Oliguria	ORPHA:1054
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Panniculitis	ORPHA:33577
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Small intestin...	ORPHA:298
Tick-Borne Encephalitis	Myelitis, Vomiting, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thromb...	ORPHA:297
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta...	ORPHA:53035
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Autoimmunity, Renal insufficiency, Otitis media, ...	ORPHA:900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc...	OMIM:233600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis	OMIM:228000
Tarp Syndrome	Horseshoe kidney, Hydronephrosis, Extramedullary hematopoiesis	ORPHA:2886
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
Listeriosis	Diarrhea, Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis...	ORPHA:533
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy...	OMIM:618278
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Snakebite Envenomation	Acute kidney injury, Vomiting, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombo...	ORPHA:449285
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Splenomegaly	OMIM:602390
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Glycosuria, Exocrine pancreatic insufficiency, Low-mole...	OMIM:219800
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting	ORPHA:29822
Foodborne Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:228371
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:616963
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Anorex...	ORPHA:100080
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu...	OMIM:162000
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, Colitis, ...	ORPHA:70475
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad...	ORPHA:2905
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
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	Eosinophilia, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia	OMIM:610247
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Keratitis, Aspiration pne...	ORPHA:1018
Trichohepatoenteric Syndrome 2	Colitis, Diarrhea, Chronic diarrhea, Bloody diarrhea	OMIM:614602
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Pediatric-Onset Graves Disease	Diarrhea, Keratitis, Autoimmunity, Episcleritis, Splenomegaly, Anti-thyroid peroxidase antibody p...	ORPHA:525731
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ...	ORPHA:1454
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Tubulointerstiti...	ORPHA:79259
Liddle Syndrome	Nephropathy, Constipation, Renal insufficiency	ORPHA:526
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Pancytopenia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Alg1-Cdg	Nephrotic syndrome, Chronic diarrhea, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Livedoid Vasculopathy	Abnormality of complement system, Polycythemia, Systemic lupus erythematosus, Pancytopenia, Autoi...	ORPHA:542643
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin...	ORPHA:64744
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Anemia, Nausea, Microscopic hematuria	ORPHA:71273
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ...	OMIM:620233
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Diarrhea, Splenomegaly	OMIM:252900
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Secondary Short Bowel Syndrome	Vomiting, Diarrhea, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocolitis, Con...	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	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency	OMIM:620235
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Diarrhea, Splenomegaly, Impaired T cell function	OMIM:201100
Cocaine Intoxication	Acute kidney injury, Vomiting, Hematuria, Proteinuria, Nausea, Glomerulonephritis, Tubulointersti...	ORPHA:90068
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting, Proximal tubulopathy, Polyuria, Hepatomegaly	OMIM:560000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Reye syndrome-like episodes, Nausea, Feeding difficulties, Poor appetite	ORPHA:927
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Constipation, Dysphagia, Feeding difficulties	ORPHA:35708
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen con...	ORPHA:263455
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel...	OMIM:603041
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	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, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa...	ORPHA:99745
Hyperzincemia With Functional Zinc Depletion	Diarrhea	OMIM:601979
Hyaline Fibromatosis Syndrome	Diarrhea	OMIM:228600
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c...	OMIM:615862
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:264350
Reticular Dysgenesis	Diarrhea, Malabsorption	ORPHA:33355
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Cutaneous Mastocytoma	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79455
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Neuroleptic Malignant Syndrome	Acute kidney injury, Vomiting, Aspiration pneumonia, Leukocytosis, Proteinuria, Myoglobinuria, Th...	ORPHA:94093
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Vomiting, Dicarboxylic aciduria, 3-hydroxydicarboxylic aciduria,...	OMIM:613070
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nausea, Diarrhea, Dysphagia, Poor appetite	ORPHA:352447
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis...	ORPHA:379
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti...	ORPHA:99147
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain	ORPHA:100924
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain	OMIM:613960
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath...	OMIM:267700
Ddost-Cdg	Nephrotic range proteinuria, Gastroesophageal reflux, Hepatic steatosis, Constipation	ORPHA:300536
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Nasogastric tube feeding	ORPHA:289504
Pyomyositis	Myositis, Leukocytosis, Recurrent cutaneous abscess formation, Renal insufficiency	ORPHA:764
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri...	ORPHA:411536
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Renal insufficiency, Pancreati...	ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Thrombocytope...	OMIM:611209
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain	OMIM:176000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria	OMIM:616026
Rapadilino Syndrome	Diarrhea, Feeding difficulties	OMIM:266280
Mucopolysaccharidosis, Type Iiic	Diarrhea, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Dysphagia	OMIM:252930
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Kaposiform Lymphangiomatosis	Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma...	ORPHA:464329
Cockayne Syndrome Type 1	Diarrhea, Renal insufficiency, Proteinuria, Hepatomegaly, Anemia, Conjunctivitis, Uveitis	ORPHA:90321
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Feeding difficulties	OMIM:177735
Lichen Planopilaris	Hepatitis	ORPHA:525
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia	OMIM:247410
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Anorexia	ORPHA:49827
Mpi-Cdg	Diarrhea, Gastrointestinal hemorrhage, Vomiting, Decreased liver function	ORPHA:79319
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Visceral Myopathy 1	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd...	OMIM:155310
Acquired Generalized Lipodystrophy	Abnormality of complement system, Autoimmunity, Hepatic steatosis, Proteinuria, Cirrhosis, Hepato...	ORPHA:79086
Nk-Cell Enteropathy	Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain	ORPHA:263665
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Splenomegaly, S...	ORPHA:50918
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Vomiting, Periportal fibrosis...	OMIM:251880
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly	ORPHA:2414
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le...	OMIM:603467
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Decreased circulating antibody level	OMIM:617425
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Leptospirosis	Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Elevated serum transaminas...	ORPHA:509
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Diarrhea, Xerostomia, Vomiting, Malabsorption, Anorexia, Abdominal pain	OMIM:175500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren...	ORPHA:368
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit...	ORPHA:67
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Episodic...	ORPHA:100075
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, Hepatic steatosis, T lymphocytopenia, Neoplasm of the pancreas	ORPHA:2959
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Anti-centromere antibody positivity, Cholestasis,...	OMIM:613471
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro...	OMIM:613021
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Ren...	ORPHA:797
Benign Recurrent Intrahepatic Cholestasis	Abdominal pain, Chronic diarrhea, Nausea and vomiting, Anorexia	ORPHA:65682
Scheie Syndrome	Hepatomegaly, Rhinitis, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Abdominal pain, Dysphagia	ORPHA:589821
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Hydronephrosis,...	ORPHA:634
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur...	ORPHA:79233
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C...	ORPHA:2314
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-microglobulinu...	OMIM:227810
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru...	ORPHA:32960
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Xanthinuria, Type Ii	Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis	OMIM:603592
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Splenomegaly, Hepatic steatosis, Glomerulopathy, Pancreatitis, ...	ORPHA:2348
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Hepatic failure, Diarrhea	OMIM:235555
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Biotinidase Deficiency	Vomiting, Diarrhea, Organic aciduria, Splenomegaly, Skin rash, Seborrheic dermatitis, Hepatomegal...	OMIM:253260
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Pancreatitis, Dysph...	ORPHA:537
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis	OMIM:300519
Acute Adrenal Insufficiency	Normocytic anemia, Diarrhea, Autoimmunity, Renal insufficiency, Decreased urinary potassium, Cons...	ORPHA:95409
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Hepatic steatosis, ...	OMIM:210900
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Diarrhea, Vomiting, Protei...	ORPHA:550
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Adrenal insufficiency, Leukopenia, Thrombocytopenia, Anemia, H...	OMIM:617053
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Necrotizing Enterocolitis	Hypotension, Shock, Leukocytosis, Bradycardia, Thrombocytopenia, Neutropenia	ORPHA:391673
Congenital Toxoplasmosis	Diarrhea	ORPHA:858
Proprotein Convertase 1/3 Deficiency	Diarrhea, Malabsorption	OMIM:600955
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Vomiting, G...	ORPHA:411634
Adult-Onset Nemaline Myopathy	Paraproteinemia, Neuromuscular dysphagia	ORPHA:171442
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconju...	ORPHA:79128
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hepatocellular necrosis, Exe...	OMIM:201475
Behçet Disease	Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, In...	ORPHA:117
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Recurrent otitis media, Heparan sulfate excretion in urine, Hepato...	OMIM:309900
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Chronic Mucocutaneous Candidiasis	Skin rash, Recurrent respiratory infections, Cheilitis, Hepatitis	ORPHA:1334
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Vomiting, Renal insufficiency, Lipid accumulation in hepatocytes, Hydronephrosis, Cardi...	OMIM:608836
Trichohepatoenteric Syndrome 1	Galactosuria, Intractable diarrhea, Hepatic fibrosis, Cholestasis, Splenomegaly, Abnormality of t...	OMIM:222470
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis, Renal cyst, Hep...	OMIM:614922
Chylomicron Retention Disease	Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Uveitis, Splenomegaly, Infectious encephalitis, Myositis, ...	ORPHA:3452
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Ascites, Hypoplasia of the thymus, Adrenal hypoplasia, Right ventricular hypert...	OMIM:613177
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce...	ORPHA:167
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Encephalitis Lethargica	Urinary incontinence, Autoimmunity, Bowel incontinence, Increased circulating antibody level	ORPHA:83600
Intellectual Developmental Disorder, Autosomal Dominant 51	Feeding difficulties, Chronic diarrhea, Chronic constipation, Poor suck	OMIM:617788
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Osteopetrosis, Autosomal Recessive 9	Anemia, Stage 3 chronic kidney disease	OMIM:620366
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Stomatitis	OMIM:612852
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, Cardiomegaly, Hep...	ORPHA:228308
Primary Ciliary Dyskinesia	Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf...	ORPHA:244
Acute Intermittent Porphyria	Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge...	ORPHA:79276
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Hennekam Syndrome	Erysipelas, Horseshoe kidney, Lymphopenia, Ascites, Decreased circulating antibody level, Splenom...	ORPHA:2136
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Diarrhea, Gout, Renal tubular acidosis, Neoplasm of...	ORPHA:358
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Dermatitis Herpetiformis	Microcytic anemia, Autoimmunity, Eczematoid dermatitis	ORPHA:1656
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Vomiting, Diarrhea, Feeding difficulties	OMIM:250940
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Gastroesophageal reflux, Recurrent pneumonia, Impaired...	OMIM:188400
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Methanol Poisoning	Abdominal pain, Vomiting, Diarrhea	ORPHA:31825
Trisomy X	Multicystic kidney dysplasia, Constipation, Autoimmunity, Renal hypoplasia/aplasia	ORPHA:3375
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Decreased ...	OMIM:607143
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi...	ORPHA:411543
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif...	OMIM:613489
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine	OMIM:607015
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea	OMIM:300215
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Increased circulating cortisol level, Chronic noninfectious lymphaden...	ORPHA:97287
Dermatomyositis	Abnormal eosinophil morphology, Anti-Mi2 antibody positivity, Heliotrope rash, Anti-MDA5 antibody...	ORPHA:221
Nocardiosis	Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Lymphadenitis, Cutaneous abscess, Kerati...	ORPHA:31204
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Hepatomegaly, Myoglobinur...	ORPHA:157
Oculoskeletodental Syndrome	Renal agenesis, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hepatomegaly	OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Fabry Disease	Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m...	ORPHA:324
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria	OMIM:618314
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis	ORPHA:3409
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:203800
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Intestinal obstruction, ...	ORPHA:131
Meige Disease	Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of...	ORPHA:90186
Cryptococcosis	Pneumonia, Vomiting, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Peritonitis, Cirr...	ORPHA:1546
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis	ORPHA:314652
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding	OMIM:607906
Gm1-Gangliosidosis, Type I	Hepatomegaly, Vacuolated lymphocytes, Abnormality of the urinary system, Splenomegaly	OMIM:230500
Classic Galactosemia	Vomiting, Hepatic failure, Diarrhea, Feeding difficulties	ORPHA:79239
Cronkhite-Canada Syndrome	Abdominal pain, Diarrhea, Malabsorption, Anorexia	ORPHA:2930
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Wells Syndrome	Eosinophilia	ORPHA:901
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesi...	OMIM:191800
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea	OMIM:142680
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Mucopolysaccharidosis Type 6	Chronic otitis media, Mucopolysacchariduria, Splenomegaly, Sinusitis	ORPHA:583
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Megaloblastic anemia, Thr...	ORPHA:79282
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis	OMIM:211400
Pemphigus Vulgaris	Autoimmunity, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity	ORPHA:704
Alopecia Totalis	Autoimmunity	ORPHA:700
Congenital Disorder Of Glycosylation, Type Ih	Vomiting, Diarrhea, Decreased liver function, Abdominal distention	OMIM:608104
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Gastrointestinal hemorrhage, Micronodular cirrhosis	OMIM:192315
Giant Cell Arteritis	Renal insufficiency, Hematuria, Arthritis, Mediastinal lymphadenopathy, Pericarditis	ORPHA:397
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	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
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
22Q11.2 Deletion Syndrome	Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,...	ORPHA:567
Hennekam-Beemer Syndrome	Pneumonia, Clinodactyly of the 5th finger, Mastocytosis, Camptodactyly of finger	ORPHA:2135
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Limited Cutaneous Systemic Sclerosis	Autoimmunity	ORPHA:220402
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi...	ORPHA:662
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Hereditary Fructose Intolerance	Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina...	ORPHA:469
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp...	ORPHA:729
Blau Syndrome	Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Stage 5 chronic ...	ORPHA:90340
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Gastroesophageal reflux, Reduced renal corticomedullary differentiat...	OMIM:122470
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Decreased liver function	ORPHA:42
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ...	ORPHA:3243
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Decreased circulating antib...	OMIM:274000
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Abnormality of endocrine pancr...	ORPHA:93111
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Secretory diarrhea, Ascites, Polyuria, Decreased circulating antibody level, Renal ...	OMIM:618183
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Vomiting, Hepatic failure, Diarrhea	OMIM:602579
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Leukocytosis, Splenomegaly, Hepatomegaly	ORPHA:289157
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Erdheim-Chester Disease	Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Anemia, Dysuria, Retroperitoneal f...	ORPHA:35687
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Vomiting, Diarrhea, Malabsorption, Intestinal obstruction, Abdominal pain	OMIM:226300
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Meningococcal Meningitis	Renal insufficiency, Skin rash, Projectile vomiting, Infectious encephalitis	ORPHA:33475
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Arteriosclerosis, Severe Juvenile	Anemia, Chronic kidney disease	OMIM:208060
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Beta-Ketothiolase Deficiency	Hypertension, Hypotension, Leukocytosis, Thrombocytosis	ORPHA:134
Lyme Disease	Meningitis, Uveitis, Arthritis, Infectious encephalitis	ORPHA:91546
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency	ORPHA:3222
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Adiposis Dolorosa	Diarrhea, Xerostomia, Constipation	ORPHA:36397
Congenital Disorder Of Glycosylation, Type Id	Vomiting, Diarrhea	OMIM:601110
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria	OMIM:231530
Yao Syndrome	Abdominal pain, Diarrhea, Xerostomia	OMIM:617321
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Hypoactive bowel sounds, Nausea and vomiting, Mechanical il...	ORPHA:100079
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increa...	ORPHA:79277
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Malabsorption, Abdominal distention, Steatorrhea, Chronic diarrhea	ORPHA:92050
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria	ORPHA:324525
Treacher-Collins Syndrome	Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism	ORPHA:861
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Splenomegaly, Red urine, Hepatomegaly, Pink urine, Thrombocytopen...	OMIM:263700
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Gastroesophageal reflux, Periodontitis, Oligosacchariduria, Rena...	ORPHA:534
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Cog4-Cdg	Intermittent diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, F...	ORPHA:263501
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent...	ORPHA:90324
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Acute Lung Injury	Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea...	ORPHA:178320
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination	ORPHA:352682
Carnitine Deficiency, Systemic Primary	Vomiting, Diarrhea	OMIM:212140
Encephalopathy, Ethylmalonic	Chronic diarrhea, Feeding difficulties	OMIM:602473
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Nausea and vomiting	ORPHA:1842
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Eec Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit...	ORPHA:1896
Mitochondrial Dna Depletion Syndrome 11	Nausea, Chronic diarrhea	OMIM:615084
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Diarrhea	ORPHA:2575
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Abnormal myelination, Gliosis	ORPHA:280210
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N...	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	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspirati...	OMIM:230900
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Const...	ORPHA:223
Stiff-Person Syndrome	Anemia, Autoimmunity	OMIM:184850
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Gastroesophageal reflux, Decreased circulati...	ORPHA:369837
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Myoglobinuria, Red-brown urine, Hepatic steatosis	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	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Cockayne Syndrome A	Renal insufficiency, Splenomegaly, Thymic hormone decreased, Proteinuria, Hepatomegaly, Micropenis	OMIM:216400
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Hyperhidrosis, Aspiration pneumonia	ORPHA:79264
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Skin rash, Splenomegaly	ORPHA:53715
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Episcleritis, Splenomegaly, ...	OMIM:602782
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Poor appetite	ORPHA:2221
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Cholestasis, Hepatosplenomegaly, Stage 5...	OMIM:266920
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis	OMIM:300323
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Timothy Syndrome	Pneumonia, Hypothyroidism, Bronchitis	OMIM:601005
Carcinoid Syndrome	Episodic abdominal pain, Lack of bowel sounds, Nausea and vomiting, Protracted diarrhea	ORPHA:100093
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Malar rash, Renal insuffici...	ORPHA:191
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Nausea, Constipation	ORPHA:2828
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Renal insufficiency, Episcleritis, Skin rash, Infectious encephaliti...	ORPHA:761
Kleefstra Syndrome	Gastroesophageal reflux, Chronic otitis media, Vesicoureteral reflux, Renal insufficiency, Hydron...	ORPHA:261494
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Diarrhea,...	OMIM:241200
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Autoimmunity, Abnormal renal tubule morphol...	ORPHA:732
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, A...	ORPHA:2237
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Renal insuffic...	OMIM:613610
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cryptorchidism, Infectious encephalitis	ORPHA:1194
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Vomiting, Diarrhea	OMIM:605911
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea	ORPHA:411703
Dyskeratosis Congenita	Bone marrow hypocellularity, Blepharitis, Periodontitis, Splenomegaly, Displacement of the urethr...	ORPHA:1775
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Japanese Encephalitis	Vomiting, Diarrhea, Increased circulating antibody level, Infectious encephalitis, Neutrophilia, ...	ORPHA:79139
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmunity, Autoimmune antibody positivity	ORPHA:36913
Cockayne Syndrome B	Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis	OMIM:133540
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Chronic diarrhea	OMIM:619481
Ohdo Syndrome	Proteinuria	OMIM:249620
Holoprosencephaly	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the spleen, Proteinuri...	ORPHA:2162
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Leukopenia, Leukocytosis, Thrombocytosis, Anemia, Cardiac ar...	ORPHA:20
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97278
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Vomiting, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation	OMIM:223900
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Alg8-Cdg	Vomiting, Diarrhea, Feeding difficulties	ORPHA:79325
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Myoglobinuria	ORPHA:71212
Scleromyxedema	Gastroesophageal reflux, Paraproteinemia, Dysphagia, Abnormality of the kidney, Hypoperistalsis	ORPHA:167635
Familial Hypocalciuric Hypercalcemia	Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolithiasis, Parathormone-independent increased...	ORPHA:405
Peripartum Cardiomyopathy	Increased circulating interferon-gamma concentration, Autoimmunity, Left ventricular hypertrophy,...	ORPHA:563
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Cervical C2/C3 vertebral fusion, Abnormal myelination, Joint hypermobility	OMIM:617333
Addison Disease	Normocytic anemia, Thymoma, Diarrhea, Autoimmunity, Thiamine-responsive megaloblastic anemia, Has...	ORPHA:85138
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Autoimmunity	ORPHA:91354
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vomiting, Diarrhea	ORPHA:3240
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis...	OMIM:251300
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Vomiting, Constipation, Polyuria, Nocturia, Ren...	OMIM:263800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea	OMIM:618805
Angioedema, Hereditary, 1	Abdominal pain, Vomiting, Diarrhea	OMIM:106100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
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	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
B4Galt1-Cdg	Diarrhea	ORPHA:79332
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Jaundice, Nausea, Acute pancreatitis	OMIM:238600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
African Trypanosomiasis	Myelitis, Diarrhea, Vomiting, Conjunctivitis, Keratitis, Hepatosplenomegaly, Renal insufficiency,...	ORPHA:3385
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Infantile Nephropathic Cystinosis	Aminoaciduria, Vomiting, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal t...	ORPHA:411629
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Splenomegaly, Red ...	ORPHA:95159
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplasia, Superfici...	ORPHA:83617
Alström Syndrome	Chronic kidney disease, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glomerulonephritis, Hep...	ORPHA:64
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh...	ORPHA:100078
Hypomagnesemia 2, Renal	Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Analbuminemia	Hypotension	OMIM:616000
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Renal artery atherosclerosis, Pancreatitis, H...	ORPHA:565612
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Intrahepatic biliary dysgenesis, Hydronephrosis, Prolonged neonatal jaundice, Dysp...	OMIM:214100
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Left ventricular hype...	ORPHA:320
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency, Ascites	OMIM:610965
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Nausea and vomiting, Anorexia, ...	ORPHA:1333
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Diarrhea,...	OMIM:601678
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Loeffler Endocarditis	Eosinophilia, Left ventricular hypertrophy, Pericarditis	ORPHA:75566
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Leukopenia, A...	ORPHA:84
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic...	OMIM:619991
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Alopecia Universalis	Autoimmunity	ORPHA:701
Teratoma, Pineal	Abnormal abdomen morphology, Polyuria	OMIM:273120
Hereditary Angioedema Type 1	Vomiting, Diarrhea, Nausea, Abdominal pain, Dysphagia	ORPHA:100050
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Increased circulating IgE level, Splenome...	ORPHA:373
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir...	ORPHA:354
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, Pancytopenia, Splenomegaly	OMIM:231005
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency	ORPHA:1563
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Congenital Myopathy 20	Chronic diarrhea	OMIM:620310
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul...	OMIM:212138
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti...	OMIM:603860
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Renal insu...	ORPHA:105
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Amyloidosis, Hereditary Systemic 1	Diarrhea, Episodic vomiting, Constipation	OMIM:105210
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Familial Dysautonomia	Gastroesophageal reflux, Renal insufficiency, Glomerulopathy, Abnormality of the kidney, Abnormal...	ORPHA:1764
Familial Glucocorticoid Deficiency	Vomiting, Diarrhea, Episodic abdominal pain, Constipation, Anorexia	ORPHA:361
19P13.13 Microdeletion Syndrome	Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, 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	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting	OMIM:612780
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:363558
Isolated Osteopoikilosis	Discoid lupus rash, Autoimmunity, Abnormality of the kidney	ORPHA:166119
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma...	ORPHA:99880
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Diarrhea, Gastroesophageal reflux, Cutaneous abscess, Increased hepatic echo...	OMIM:147060
Hartnup Disease	Skin rash, Infectious encephalitis	ORPHA:2116
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Specific Granule Deficiency 2	Intractable diarrhea	OMIM:617475
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst...	ORPHA:97283
Helix Syndrome	Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithiasis, Polyuria	OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Mild proteinuria	OMIM:619685
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Steatorrhea, Abdomina...	ORPHA:309031
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma...	ORPHA:143
Mercury Poisoning	Nausea, Acute kidney injury, Interstitial pneumonitis, Episodic vomiting	ORPHA:330021
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat...	ORPHA:51
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea	ORPHA:100085
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation	OMIM:608643
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Malabsorption, Chronic diarrhea	ORPHA:3217
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Diarrhea, Xerostomia, Infla...	ORPHA:95455
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Familial Hypoaldosteronism	Diarrhea, Nausea and vomiting, Feeding difficulties	ORPHA:427
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Reduced pancreatic beta cells, Renal insufficiency	OMIM:226980
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Feeding difficulties	OMIM:255120
Juvenile Polyposis Syndrome	Hematochezia, Abdominal pain, Diarrhea	OMIM:174900
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Abnormal isohemagglutinin level, Neutrophilia, Anemia	ORPHA:99843
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Pancrea...	ORPHA:261265
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Anorexia, Abdominal pain	ORPHA:139411
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency	OMIM:617159
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Renal insufficiency	ORPHA:96147
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Cryptorchidism, Abnormal hemoglobin, Infectious encephalitis,...	ORPHA:847
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97261
Incontinentia Pigmenti	Keratitis, Supernumerary nipple, Skin rash, Infectious encephalitis, Eosinophilia, Uveitis	ORPHA:464
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti...	OMIM:301072
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Recurrent otitis media, Multiple bladder diverticula	ORPHA:2728
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Gastroesophageal reflux, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recur...	ORPHA:397715
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hepatomegaly, Elev...	OMIM:619127
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Mitochondrial Trifunctional Protein Deficiency 1	Cholestasis, Myoglobinuria	OMIM:609015
Monosomy 18Q	Micropenis, Decreased circulating IgA level	ORPHA:1600
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Cerebral Visual Impairment	Meningitis, Unusual CNS infection, Infectious encephalitis	ORPHA:447788
Lysosomal Acid Lipase Deficiency	Hypotension, Hepatosplenomegaly, Hypersplenism, Pulmonary arterial hypertension, Anemia, Vacuolat...	ORPHA:275761
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Tarsal sclerosis, Shoulder dislocation, Sclerosis of finger phalanx, ...	ORPHA:404454
Cushing Syndrome Due To Ectopic Acth Secretion	Diarrhea, Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Neoplasm...	ORPHA:99889
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	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	Medullary nephrocalcinosis, Hypercalciuria, Polyuria	OMIM:300971
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Truncus Arteriosus	Cardiomegaly, Hypoplasia of the thymus, Right ventricular hypertrophy, Adrenocortical abnormality	ORPHA:3384
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:26793
Fructose-1,6-Bisphosphatase Deficiency	Vomiting, Diarrhea, Reye syndrome-like episodes	ORPHA:348
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria...	ORPHA:2750
Monosomy 18P	Autoimmunity	ORPHA:1598
Phoar2-Enteropathy Syndrome	Secretory diarrhea	OMIM:614441
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Renal insufficiency	OMIM:203300
Myasthenia Gravis	Thymoma, Autoimmunity, Dysphagia	OMIM:254200
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary lymphangio...	ORPHA:805
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Autoerythrocyte Sensitization Syndrome	Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea	ORPHA:324636
Congenital Disorder Of Glycosylation, Type Im	Vomiting, Diarrhea	OMIM:610768
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Leukocytosis, Recurrent cutaneous fungal infection...	ORPHA:96253
Uremic Pruritus	Chronic kidney disease, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Abn...	ORPHA:94059
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Vomiting, Diarrhea, Episodic vomiting	OMIM:618321
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysmotility, Constipati...	ORPHA:2131
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias	OMIM:300661
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Intellectual Developmental Disorder, Autosomal Dominant 57	Intermittent diarrhea, Diarrhea, Feeding difficulties, Constipation	OMIM:618050
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea	OMIM:256700
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Serotonin Syndrome	Nausea, Hepatic failure, Diarrhea	ORPHA:43116
Viss Syndrome	Atopic dermatitis, Gastroesophageal reflux, Eczematoid dermatitis, Increased circulating IgE leve...	OMIM:619472
Wagro Syndrome	Proteinuria, Nephroblastoma	OMIM:612469
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Houge-Janssens Syndrome 1	Chronic diarrhea	OMIM:616355
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Stage 5 chronic kidney d...	ORPHA:89938
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Constipation, Decreased circula...	OMIM:617062
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Systemic lupus erythematosus, Hypersplenism, Interstitial pneumonitis, Splenomega...	ORPHA:77293
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level	OMIM:264090
Late-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556037
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Maternal Uniparental Disomy Of Chromosome 2	Chordee, Hypospadias, Renal dysplasia, Renal insufficiency	ORPHA:96179
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Infectious encephal...	ORPHA:68
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Mitochondrial Complex I Deficiency, Nuclear Type 29	Vomiting, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Localized Scleroderma	Gastroesophageal reflux, Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Abnormality...	ORPHA:90289
Occipital Horn Syndrome	Cholestasis, Jaundice, Esophagitis, Hepatitis	ORPHA:198
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal...	ORPHA:391641
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf...	ORPHA:116
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability	OMIM:614227
Early-Onset Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension	ORPHA:556030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Autoimmune Polyendocrinopathy Type 1	Autoimmunity	ORPHA:3453
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Mucopolysaccharidosis, Type Vi	Pneumonia, Reduced leukocyte arylsulfatase B activity, Recurrent upper respiratory tract infectio...	OMIM:253200
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Decreased beta-galactosidase activity, Aspiration pneumonia	ORPHA:79255
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria, Oral-pharyngeal dysphagia	OMIM:616878
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab...	ORPHA:99885
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Chronic constipation, Feeding difficulties in infancy, Chronic diarrhea,...	ORPHA:500055
Chops Syndrome	Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Acute Transverse Myelitis	Urinary retention, Urinary bladder sphincter dysfunction, Systemic lupus erythematosus, Gastropar...	ORPHA:139417
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Splenomegaly, Nephrolithiasis, Cirrhosis, Hepatomegaly, Elevated hemoglobin A1...	OMIM:269700
Pituitary Apoplexy	Hypotension, Hypertension, Normochromic anemia	ORPHA:95613
Antisynthetase Syndrome	Xerostomia, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis...	ORPHA:81
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom...	ORPHA:707
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Turcot Syndrome With Polyposis	Hematochezia, Vomiting, Diarrhea, Nausea, Constipation, Melena, Abdominal pain	ORPHA:99818
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Dark urine, Congenital hepatic fibrosis, Cirrhosis, ...	OMIM:619534
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Abdominal distention	OMIM:270420
Alpha-Mannosidosis, Infantile Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activit...	ORPHA:309282
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination	ORPHA:442835
Citrullinemia Type Ii	Vomiting, Diarrhea	ORPHA:247585
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Mitchell-Riley Syndrome	Diarrhea, Malabsorption	OMIM:615710
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract infection, Otitis med...	ORPHA:581
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea	OMIM:300953
Orofaciodigital Syndrome I	Hepatic fibrosis, Hepatic cysts, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Familial Gestational Hyperthyroidism	Diarrhea	ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of humoral immunity, Septic arthritis, Fasciitis, Osteomyelit...	ORPHA:642
Bardet-Biedl Syndrome 20	Proteinuria, Pancreatitis, Micropenis	OMIM:619471
Juvenile Polyposis Of Infancy	Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Melena, Abdominal pain	ORPHA:79076
Velocardiofacial Syndrome	Hypoparathyroidism, Pulmonary artery atresia, Unilateral primary pulmonary dysgenesis, Impaired T...	OMIM:192430
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Fat malabsorption, Malnutrition	ORPHA:96180
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Diarrhea, Episodic vomiting	OMIM:246450
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Splenomegaly	OMIM:612132
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney	ORPHA:140952
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Dysphagia	ORPHA:25
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Renal magnesi...	OMIM:218330
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Infantile Systemic Hyalinosis	Steatorrhea, Malabsorption, Chronic diarrhea, Feeding difficulties	ORPHA:2176
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:309000
Chikungunya	Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, S...	ORPHA:324625
Eisenmenger Syndrome	Bacterial endocarditis, Increased mean corpuscular volume, Brain abscess, Ascites, Abnormality of...	ORPHA:97214
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Poliomyelitis	Meningitis, Myelitis, Infectious encephalitis	ORPHA:2912
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Shwachman-Diamond Syndrome 2	Steatorrhea, Diarrhea, Exocrine pancreatic insufficiency	OMIM:617941
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Esophagitis, Intestinal obstruction, Episodi...	ORPHA:913
Niemann-Pick Disease Type C	Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly...	ORPHA:646
Infant Botulism	Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tracheomalacia, Splenic cyst, Pancreatitis, Gliosis, Abnormal CNS myelination, Finger joint hyper...	OMIM:620371
Dopamine Beta-Hydroxylase Deficiency	Vomiting, Diarrhea	ORPHA:230
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis	OMIM:617994
Incontinentia Pigmenti	Keratitis, Leukocytosis, Eosinophilia, Maculopapular exanthema, Uveitis	OMIM:308300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Developmental And Epileptic Encephalopathy 50	Diarrhea, Dysphagia	OMIM:616457
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Autoimmunity, Lupus anticoagulant, Antiphosph...	ORPHA:70591
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea	ORPHA:424
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Williams Syndrome	Chronic otitis media, Cholelithiasis, Gastroesophageal reflux, Renal insufficiency, Renal duplica...	ORPHA:904
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia	OMIM:619167
Acrodermatitis Enteropathica	Malabsorption, Chronic diarrhea, Poor appetite, Anorexia	ORPHA:37
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Reye syndrome-like episodes, Abdomina...	OMIM:256810
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Splenomegaly, Astrocytosis, Polycythemia	ORPHA:309854
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentra...	ORPHA:73230
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Ascites, Splenomegaly, Cardiomegaly, Eosinophi...	ORPHA:75565
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Non-Functioning Pituitary Adenoma	Hypotension, Anemia of inadequate production	ORPHA:91349
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Colitis, Chronic diarrhea	OMIM:301220
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Decreased circulating cortisol level, Jaundice	ORPHA:90790
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Abdominal distention	OMIM:214700
Mucopolysaccharidosis, Type Iiid	Tube feeding, Diarrhea, Dysphagia	OMIM:252940
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Exocr...	OMIM:118450
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Myoglobinuria	ORPHA:423
Aymé-Gripp Syndrome	Proteinuria, Pericarditis	ORPHA:1272
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp...	OMIM:620186
Trichinellosis	Increased circulating IgE level, Skin rash, Conjunctivitis, Nausea, Dysphagia	ORPHA:863
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Zttk Syndrome	Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Polyuria, Chronic diarrhea	OMIM:617140
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor...	ORPHA:85436
Au-Kline Syndrome	Chronic kidney disease, Gastroesophageal reflux, Dilatation of the renal pelvis, Vesicoureteral r...	OMIM:616580
Cerebrotendinous Xanthomatosis	Diarrhea, Pseudobulbar paralysis	OMIM:213700
Scorpion Envenomation	Acute kidney injury, Vomiting, Diarrhea, Ketonuria, Glycosuria, Myocarditis, Acute pancreatitis	ORPHA:466677
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Sandhoff Disease	Episodic abdominal pain, Chronic diarrhea	OMIM:268800
Pemphigus Foliaceus	Autoimmunity	ORPHA:79481
Reactive Arthritis	Recurrent aphthous stomatitis, Abdominal pain, Inflammation of the large intestine, Diarrhea	ORPHA:29207
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Trichothiodystrophy 1, Photosensitive	Malabsorption, Chronic diarrhea, Intestinal obstruction	OMIM:601675
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Tooth abscess, Enthesitis, Abnormality of renal excre...	ORPHA:289176
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Calciphylaxis	Stage 5 chronic kidney disease	ORPHA:280062
Glossopharyngeal Neuralgia	Autoimmunity	ORPHA:221098
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Dysphagia, Feeding difficulties	OMIM:620358
Multiple Endocrine Neoplasia, Type Iib	Diarrhea, Constipation	OMIM:162300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hematemesis, Melena, Bloody diarrhea	ORPHA:464321
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Autoimmunity	ORPHA:449291
Ehlers-Danlos Syndrome, Periodontal Type, 1	Autoimmunity	OMIM:130080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Joint contracture of the hand, Mixed demyelinating and axonal polyneuropathy, ...	ORPHA:466768
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dysphagia, Increased circulating antibody level	OMIM:606002
Extracranial Carotid Artery Aneurysm	Autoimmunity	ORPHA:494424
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent skin infections	ORPHA:79404
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsorption, Anorexia, Steatorrhe...	OMIM:557000
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Recurrent urinary tract infections, ...	OMIM:194050
Multiple Endocrine Neoplasia, Type I	Diarrhea, Esophagitis	OMIM:131100
Farber Disease	Hepatic failure, Chronic diarrhea, Feeding difficulties	ORPHA:333
Sotos Syndrome	Gastroesophageal reflux, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropelvi...	ORPHA:821
Trichohepatoneurodevelopmental Syndrome	Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficiency, Steatorrhea...	OMIM:618268
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Chronic diarrhea	ORPHA:457279
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Rat-Bite Fever	Vomiting, Diarrhea, Parotitis	ORPHA:31205
Costello Syndrome	Renal insufficiency, Lymphangiectasis	OMIM:218040
Mednik Syndrome	Diarrhea	OMIM:609313
Alg9-Cdg	Vomiting, Diarrhea, Gastroesophageal reflux	ORPHA:79328
Lipodystrophy, Familial Partial, Type 7	Vomiting, Diarrhea, Recurrent pancreatitis, Polyuria, Dysphagia	OMIM:606721
Rothmund-Thomson Syndrome Type 1	Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding	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	Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo...	ORPHA:97282
Neuroblastoma	Chronic diarrhea, Abdominal distention	ORPHA:635
Alexander Disease	Infectious encephalitis	ORPHA:58
Cranioectodermal Dysplasia 3	Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:845
Multiple Endocrine Neoplasia Type 1	Melena, Vomiting, Diarrhea, Gastroesophageal reflux, Nausea, Constipation, Hematemesis, Anorexia,...	ORPHA:652
Rothmund-Thomson Syndrome	Nasogastric tube feeding in infancy, Vomiting, Diarrhea	ORPHA:2909
Sapho Syndrome	Inflammation of the large intestine, Malabsorption, Steatorrhea, Abdominal pain, Chronic diarrhea	ORPHA:793
Rothmund-Thomson Syndrome Type 2	Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding	ORPHA:221016
Peutz-Jeghers Syndrome	Abdominal pain, Intestinal bleeding, Bloody diarrhea	OMIM:175200
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Autoimmunity, Skin rash, Myositis, Constipation, Arthritis, Dysphagi...	ORPHA:93672
Pmm2-Cdg	Hepatic fibrosis, Vomiting, Aspiration pneumonia, Proteinuria, Impaired neutrophil chemotaxis, Ab...	ORPHA:79318
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Inflammation of the large intestine, Horseshoe kidney, ...	ORPHA:110
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Gastroesophageal reflux, Encopresis, Constipation	OMIM:616682
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Dyskeratosis Congenita, Autosomal Dominant 2	Chronic diarrhea	OMIM:613989
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia	ORPHA:70
Ogden Syndrome	Vomiting, Diarrhea, Tube feeding, Dysphagia, Feeding difficulties	OMIM:300855
Deeah Syndrome	Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Chronic diarrhea, Dysphagia	OMIM:619004
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia	OMIM:602535
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic diarrhea, Chronic constipation	OMIM:619005
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Gastroesophageal reflux, Abnormal esophagus physiology, Nausea, Anorexia, A...	ORPHA:99921
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea	ORPHA:3164
Diamond-Blackfan Anemia 21	Chronic diarrhea	OMIM:620072
Multiple Endocrine Neoplasia Type 2	Constipation, Diarrhea, Abdominal distention	ORPHA:653
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Periodontitis	OMIM:619269
Hurler Syndrome	Chronic diarrhea, Feeding difficulties	ORPHA:93473
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:881
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Decreased sweating due to autonomic dysfunction, Anhidrosis	ORPHA:99027
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Diarrhea, Poor appetite	ORPHA:247598
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Constipation, Multiple renal cysts,...	ORPHA:857
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Vesicoureteral reflux, Renal insufficiency...	ORPHA:199
Abetalipoproteinemia	Steatorrhea, Vomiting, Chronic diarrhea, Fat malabsorption	ORPHA:14
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infan...	ORPHA:273
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Constipation, Episodic vomiting, Chronic diarrhea, Dysphagia, Feeding di...	OMIM:615873
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Congestive heart failure	ORPHA:428
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea	OMIM:116920
Multiple Endocrine Neoplasia Type 4	Episodic abdominal pain, Diarrhea, Esophagitis	ORPHA:276152
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension	ORPHA:90791
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Jaundice	OMIM:614231
Dubowitz Syndrome	Malabsorption, Chronic diarrhea	ORPHA:235
Proteus Syndrome	Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic...	ORPHA:744
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension	ORPHA:93256
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Gastroesophageal reflux, Renal insufficiency, Ves...	OMIM:107480
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Feeding diffi...	OMIM:619573
Prolactinoma	Hypotension	ORPHA:2965
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Hepatoblastoma, Aspiration pneumonia	ORPHA:1465
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr...	ORPHA:91347
Neonatal Inflammatory Skin And Bowel Disease	Bloody diarrhea, Recurrent gastroenteritis	ORPHA:294023
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia	OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis	ORPHA:280633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Aspiration pneumonia	ORPHA:444077
Floating-Harbor Syndrome	Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the renal pelvis, Renal agenesis, Stage ...	ORPHA:2044
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Hypothyroidism, Increased circulating prolactin concentration, Aspiration pneumonia	ORPHA:438213
Doors Syndrome	Congenital hypothyroidism, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Kabuki Syndrome 1	Recurrent otitis media, Congenital hypothyroidism, Recurrent aspiration pneumonia, Autoimmune thr...	OMIM:147920
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Recurrent otitis media, Conjunctivitis, Recurrent respiratory inf...	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	Vomiting, Diarrhea	ORPHA:217253
Cerebrotendinous Xanthomatosis	Chronic diarrhea	ORPHA:909
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	ORPHA:93924
Juvenile Polyposis Syndrome	Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Hematochezia	ORPHA:2929
Loeys-Dietz Syndrome 6	Knee osteoarthritis, Hip osteoarthritis, Autoimmunity, Osteoarthritis	OMIM:619656
Nijmegen Breakage Syndrome	Chronic diarrhea	ORPHA:647
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Duplication of phalanx of hall...	ORPHA:434179
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
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Gastrointestinal dys...	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	Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia	OMIM:612289
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Intermittent diarrhea, Feeding difficulties	ORPHA:2255
Ectodermal Dysplasia-Skin Fragility Syndrome	Chronic diarrhea	ORPHA:158668
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypotension, Hypovolemia	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.

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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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