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Gene: Ptprc MGI:97810

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... OMIM:613496
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... OMIM:618495
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... ORPHA:169160
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... ORPHA:277
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... OMIM:619632
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin lev... ORPHA:98813
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Increased circulating IgE ... OMIM:304790
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ... ORPHA:567544
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... ORPHA:514
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia ORPHA:60026
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Follicular... OMIM:615934
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Chronic... OMIM:614699
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Immunodeficiency 102
Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe... OMIM:301082
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Decreased... OMIM:618986
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious ence... OMIM:616098
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Chronic diarrhea, Diarrhe... OMIM:617099
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Chronic diarrhea, Enlarged tonsils, ... OMIM:616005
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... ORPHA:79087
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Boutonneuse Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Diarrhea, Lymp... ORPHA:83313
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ul... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... OMIM:619644
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Splenomegaly, Leukocytosis, Jaun... ORPHA:90051
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash... ORPHA:572
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoag... ORPHA:93552
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, Decreased c... OMIM:619510
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Complement Component C1R/C1S Deficiency
Complement deficiency, Nephritis, Autoimmunity OMIM:216950
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Pancreatitis, A... ORPHA:188
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... ORPHA:97362
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Iron deficiency anemia... ORPHA:37042
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte proliferation... ORPHA:99867
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... ORPHA:99931
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus OMIM:613791
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... ORPHA:449395
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Decreased circulating compleme... OMIM:612926
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... OMIM:613179
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... OMIM:209920
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Schimke Immuno-Osseous Dysplasia
Proteinuria, Autoimmunity, Impaired T cell function, Abnormal lymphocyte physiology, Minimal chan... ORPHA:1830
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Hypothyroidis... ORPHA:83471
Aspergillosis
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu... ORPHA:340
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Episcleritis, Autoim... ORPHA:727
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... ORPHA:139402
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... ORPHA:217260
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Selective Igm Deficiency
Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent cutaneous ... ORPHA:331235
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eosinophi... OMIM:615816
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Abnormality of the li... ORPHA:1304
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Secretory diarrhea, Bloody diarrhea, V... ORPHA:544482
Lassa Fever
Jaundice, Diarrhea, Oliguria, Increased circulating IgM level, Conjunctivitis, Dysphagia ORPHA:99824
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diarrhea 9
Diarrhea OMIM:618168
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o... ORPHA:400
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, A... OMIM:614034
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Microscopic hematuria, Myocarditis, Leuk... ORPHA:319213
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... ORPHA:449400
Angiostrongyliasis
Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased circulating sp... ORPHA:74
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Lysinuric Protein Intolerance
Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Decreased glomerular filtrati... ORPHA:470
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... OMIM:614380
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Preeclampsia
Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidney disease, Abnormality of the ... ORPHA:275555
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu... OMIM:235400
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... OMIM:243700
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Splenomegaly, Abnormal lung morphology, Recurrent phary... ORPHA:549
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... OMIM:619752
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... ORPHA:90060
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Autoimmunity, Decreased circulating complement factor B concentrat... ORPHA:2298
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrosialidosis
Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Nephropathy, Ascites OMIM:256150
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... ORPHA:79078
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Alopecia Areata 1
Autoimmunity OMIM:104000
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin... ORPHA:319218
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Microangiopathic hemolyti... ORPHA:54057
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Increased... ORPHA:449432
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Omenn Syndrome
Hepatomegaly, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea... ORPHA:39041
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin... OMIM:620210
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Circulating immune complexes, Lymphad... ORPHA:2035
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Hepatomegaly, Renal insufficiency, Proteinuria, Autoimmunity, Skin ... ORPHA:36412
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Brunner Syndrome
Diarrhea OMIM:300615
Colchicine Poisoning
Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Vomiting, Nausea ORPHA:31824
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Autoimmunity, Splenomegaly, Diarrhea, Lym... ORPHA:56425
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting OMIM:230350
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Diarrhea, Protracted diarrhea, Anemia, Decreased circulating... OMIM:615758
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leu... ORPHA:77259
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc... ORPHA:108
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Autoimmunity, Xerostomia, Oliguria, Arthritis, Gastroesophageal reflux, Dysp... ORPHA:220393
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria OMIM:245900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... ORPHA:85450
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Diarrhea, Bloo... ORPHA:90038
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... OMIM:242860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... OMIM:617021
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... OMIM:619381
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... ORPHA:781
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, Vomiting, Cons... OMIM:121300
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Prolidase Deficiency
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crusting erythem... OMIM:170100
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mas... ORPHA:98848
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... OMIM:275350
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Cholestatic liver disease, Chronic kidney disease, Abnormal tubulointerstitial morph... OMIM:602114
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... ORPHA:77297
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He... ORPHA:227990
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:606528
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, CNS hypomyeli... OMIM:312080
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... ORPHA:540
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu... ORPHA:47612
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circu... OMIM:617303
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... ORPHA:79303
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Graft Versus Host Disease
Elevated hepatic transaminase, Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis OMIM:606996
Solitary Rectal Ulcer Syndrome
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... ORPHA:209964
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Anemia ORPHA:1192
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Yellow Fever
Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Increased circulating interleukin ... ORPHA:99829
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Portal hypertension, Reduced forced... OMIM:613385
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepat... ORPHA:292
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Ataxia-Telangiectasia
Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig... OMIM:208900
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Chronic diarrhea, Abnormal lymphatic vessel... ORPHA:90362
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... OMIM:609814
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic ki... OMIM:242900
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Roifman Syndrome
Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Decreased circulating antibody level,... ORPHA:353298
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... ORPHA:2686
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Anemia ORPHA:28
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Chronic constipation, Glomerula... OMIM:619428
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleukin 6 concentrati... ORPHA:160
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria ORPHA:159
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Inclusion Body Myositis
Autoimmunity ORPHA:611
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Erythroderma Desquamativum
Diarrhea ORPHA:314
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, P... OMIM:617591
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Cryoglobulinemia, Gastrointestinal hemorrha... ORPHA:33226
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Vomiting, Diarrhea OMIM:615863
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... OMIM:607115
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Renal amyloidosis, Re... OMIM:191900
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... OMIM:256040
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level, Increased hematocrit, Ascites, Polycy... ORPHA:284227
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Enterokinase Deficiency
Diarrhea OMIM:226200
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Gliosis OMIM:125700
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp... OMIM:608233
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... OMIM:615993
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... ORPHA:650
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Chronic diarrhea, C... ORPHA:85445
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leu... OMIM:610377
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis OMIM:619079
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy... ORPHA:27
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Galactosemia I
Hemolytic anemia, Hepatomegaly, Diarrhea, Aminoaciduria, Albuminuria, Galactosuria, Increased lev... OMIM:230400
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Functional abnormality of ... ORPHA:388
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Nephritis... ORPHA:2552
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... 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
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni... ORPHA:90033
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... OMIM:603553
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Lupus Erythematosus Tumidus
Antinuclear antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity... ORPHA:90283
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... ORPHA:449427
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality ... ORPHA:85443
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent urinary tract ... OMIM:619487
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Na... ORPHA:542323
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, D... OMIM:300972
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Ga... ORPHA:90291
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Shor... OMIM:248910
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis ORPHA:477814
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Dyspnea, Primary adrenal insu... ORPHA:589
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Constipation ORPHA:225
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Ch... OMIM:614576
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... OMIM:607426
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:2584
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Gastritis, Autoimmunity, P... ORPHA:809
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Diarrhea, Anemia, Leukopenia, Hematuria, Abnormality of the... ORPHA:91547
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Autoimmunity, Eosinophi... ORPHA:183
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi... ORPHA:98850
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Inf... ORPHA:83317
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Chilblains, Pneu... OMIM:615846
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni... ORPHA:508533
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis, Hypohidrosis ORPHA:363523
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Diarrhea, C... ORPHA:90045
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm... ORPHA:1855
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Cryoglobulinemia, Abnormal renal physiology OMIM:123550
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... ORPHA:79147
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis ORPHA:2902
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Constipat... OMIM:239200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
Pfapa Syndrome
Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Anemia, Leuko... OMIM:620184
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Drug-Induced Lupus Erythematosus
Pericarditis, Antinuclear antibody positivity, Autoimmune antibody positivity, Anemia, Hematuria,... ORPHA:231111
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating a... ORPHA:77261
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Microlissencephaly
Pneumonia ORPHA:1083
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... ORPHA:713
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Nephrotic syndrome, Arthritis, Rena... ORPHA:575
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections, Autoimmunity ORPHA:454
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Increase... ORPHA:505248
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Diarrhea, Hemoglobinuria, Coombs-positive he... ORPHA:90035
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neutropenia, Nephrolithiasis, Gout,... OMIM:232220
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:86893
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia, Abnormal myelination ORPHA:85179
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circula... ORPHA:319251
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... OMIM:615688
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone marrow hypoc... ORPHA:445038
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Linear Iga Dermatosis
Renal neoplasm, Autoimmunity ORPHA:46488
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Exercise-Induced Malignant Hyperthermia
Oliguria, Vomiting, Acute kidney injury, Nausea, Thrombocytopenia ORPHA:466650
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Fabry Disease
Renal insufficiency, Proteinuria, Diarrhea, Urinary mulberry cells, Vomiting, Lipiduria, Left ven... OMIM:301500
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Systemic Lupus Erythematosus, Susceptibility To, 6
Antinuclear antibody positivity, Abnormality of the kidney, Abnormal renal physiology, Systemic l... OMIM:609939
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Lead Poisoning
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Chronic kidney disea... ORPHA:330015
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Abnormality of the urinary system, Hepatomegaly ORPHA:2204
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Constipation, Gastroesophageal reflux, Dysphagia, Decrease... DECIPHER:45
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath... OMIM:274150
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Ch... ORPHA:440713
Shigellosis
Uveitis, Bloody diarrhea, Paralytic ileus, Vomiting, Conjunctivitis, Nausea, Acute colitis, Absce... ORPHA:810
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Renal insufficiency, Ascites ORPHA:890
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Panhypogamm... ORPHA:84064
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea OMIM:246700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev... OMIM:615234
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Abdominal pain OMIM:620137
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moderate... OMIM:619525
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibrosis, Hepatic fibrosis, Cirrhosi... ORPHA:369
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, P... OMIM:276700
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Hepatocellular adenoma, ... ORPHA:264580
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,... ORPHA:449563
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Abscess, Bronchi... ORPHA:125
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis... ORPHA:342
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Proteinuria, Diarrhea, Renal cyst, Nephrotic syndrome, Proximal tubul... OMIM:212065
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Gliosis OMIM:614959
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Sialidosis Type 2
Splenomegaly, Nephropathy, Ascites, Hepatomegaly ORPHA:87876
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Vomiting,... OMIM:257200
Roifman Syndrome
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent... OMIM:616651
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Diar... OMIM:249100
Immunodeficiency 88
Eosinophilia OMIM:619630
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Type 1 Diabetes Mellitus
Polyuria, Autoimmunity OMIM:222100
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... OMIM:614162
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Bronchiec... OMIM:619468
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Renal tubular acidosis, Hepatic fib... ORPHA:79240
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Crimean-Congo Hemorrhagic Fever
Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, He... ORPHA:99827
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, Myocardit... ORPHA:2331
Wolcott-Rallison Syndrome
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Iron deficiency anemia, Abno... ORPHA:1667
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... ORPHA:293978
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Recurrent oti... OMIM:605309
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... OMIM:181000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Wilson Disease
Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Atypi... OMIM:277900
L-2-Hydroxyglutaric Aciduria
Gliosis, Severe demyelination of the white matter OMIM:236792
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypochromic microcytic anemia, Vomiting, Mild proteinuria, Anemia OMIM:619147
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Senior-Loken Syndrome 1
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... OMIM:266900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthisis OMIM:615630
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Sjogren Syndrome
Tubulointerstitial nephritis, Autoimmunity, Rheumatoid arthritis OMIM:270150
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Acute leukemia ORPHA:281090
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Increased circulating IgG level, Tub... ORPHA:91500
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c... ORPHA:79330
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Lymphadenopathy, ... ORPHA:79456
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Thrombocytopenia OMIM:251290
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... OMIM:620233
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Hepatic steatosis, Pancreatitis OMIM:619386
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Thrombocyto... ORPHA:99828
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Acute kidney injury ORPHA:57
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Gaucher Disease Type 2
Splenomegaly, Dysphagia, Hepatomegaly ORPHA:77260
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Anemia OMIM:611489
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity ORPHA:163703
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Gliosis OMIM:613002
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... OMIM:613404
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... ORPHA:244242
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea... OMIM:617718
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Decrea... OMIM:240300
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Cutaneous abscess OMIM:619223
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal obstruction, Autoimmunity, Chronic diarrhea, Chylous... ORPHA:90363
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Cholestasis, L... OMIM:615895
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Diarrhea, Autoimmune antibody positivity, Myocarditis, Lym... ORPHA:3386
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Diarrhea, Atopic dermatitis, Dysphagia, Hematochez... ORPHA:2070
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Vascular Hyalinosis
Hematochezia, Diarrhea OMIM:277175
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Chol... ORPHA:562
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Neuroendocrine Tumor Of The Rectum
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100082
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Senior-Loken Syndrome
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... ORPHA:3156
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus OMIM:214110
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Mucopolysaccharidosis Type 7
Splenomegaly, Recurrent respiratory infections, Hepatitis, Abnormal pleura morphology ORPHA:584
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Stage 5 chronic kidney disease, Anemia, Leukopenia,... OMIM:222700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, V... ORPHA:448237
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency, Abnormal abdomen morphology OMIM:105120
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Sandhoff Disease, Juvenile Form
Diarrhea, Constipation, Dysphagia ORPHA:309162
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... ORPHA:199299
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... OMIM:610199
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Gas... OMIM:256300
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Idiopathic Aplastic Anemia
Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular... ORPHA:88
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Lymphadeno... OMIM:607944
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis OMIM:143880
Cardiogenic Shock
Oliguria ORPHA:97292
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616719
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Chronic diarrhea, Nephrotic s... ORPHA:330001
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux... OMIM:619377
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Hypoplasia of penis, Renal insufficiency, Displacement of the urethr... ORPHA:2377
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr... OMIM:214500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Central Diabetes Insipidus
Nausea and vomiting, Diarrhea, Anorexia ORPHA:178029
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Porphyria Variegata
Neurogenic bladder, Chronic kidney disease, Ileus, Porphyrinuria, Increased urinary porphobilinog... ORPHA:79473
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hepatic steatosis, Renal hypoplasia OMIM:615996
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Netherton Syndrome
Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE level, Hypereosin... OMIM:256500
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Chronic constipat... ORPHA:261222
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Diarrhea, Thyroiditis, Iron deficiency anemia, Vomiting, Recurrent aph... OMIM:212750
Overlap Myositis
Autoimmunity, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... ORPHA:206572
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Delayed myelination, Recurrent pneumonia, Osteoporosis, Flexion c... OMIM:214150
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Refsum Disease
Splenomegaly, Renal insufficiency ORPHA:773
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... ORPHA:556
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea OMIM:252920
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Jeune Syndrome
Nephropathy, Abnormality of the liver, Renal insufficiency, Nephronophthisis ORPHA:474
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Marburg Hemorrhagic Fever
Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Nausea, Reticuloc... ORPHA:99826
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent bronchitis, Dysgammagl... OMIM:251260
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hyper... ORPHA:18
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia OMIM:255125
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Cholera
Abnormality of renal excretion, Diarrhea, Vomiting, Aspiration pneumonia, Acute kidney injury, De... ORPHA:173
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi... ORPHA:90003
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decreased circulating IgG le... OMIM:620040
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Ileus, Recurrent pneumonia, Constipation, Dysphagia, Hepatic steatosi... OMIM:613327
Agel Amyloidosis
Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Abnormal spl... ORPHA:85448
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Hepati... ORPHA:199296
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Cog7-Cdg
Diarrhea, Feeding difficulties ORPHA:79333
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Renal tubular epithelial necrosis, Renal tubular dysfunct... ORPHA:31826
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Alg12-Cdg
Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)... ORPHA:79324
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... ORPHA:298
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosi... ORPHA:247353
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... OMIM:232240
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysp... OMIM:219800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Vomit... ORPHA:297
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory i... ORPHA:355
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hemochromatosis, Type 2A
Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly OMIM:602390
Tarp Syndrome
Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney ORPHA:2886
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly OMIM:228000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria ORPHA:86818
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... OMIM:618278
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Abnormality of the kidney, Anticardiolipin IgG antibody pos... ORPHA:464343
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Vomiting, Cholecystiti... ORPHA:533
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Diarrhea, Prolinuria, Dys... ORPHA:79101
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th... ORPHA:436252
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Joubert Syndrome 33
Splenomegaly OMIM:617767
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... OMIM:216360
Trichohepatoenteric Syndrome 2
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea OMIM:614602
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Split hand, Diffuse demyelination of the cerebral white matter, Gl... ORPHA:168486
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Liddle Syndrome
Nephropathy, Renal insufficiency, Constipation ORPHA:526
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Hepatomegaly OMIM:252900
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Jaundice, Anti-thyroid peroxid... ORPHA:525731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Pancytopenia, Hypoplasia of penis, Renal hypoplasia, Renal dysplasia ORPHA:85321
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Splenomegal... ORPHA:1454
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Renal Nutcracker Syndrome
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Nausea, Anemia ORPHA:71273
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Hypoperistalsis, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:1018
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency OMIM:620235
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Gliosis OMIM:603896
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Chronic diarrhea, Abnormality of the kidney ORPHA:79327
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea ORPHA:927
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Bloody diarrhea, Hematuria, Tubulointerstitial nephritis, Coliti... ORPHA:90068
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Diarrhea, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia, V... ORPHA:263455
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:264350
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Diarrhea, Proximal tubulopathy, Vomiting OMIM:560000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D... OMIM:617092
Neuroendocrine Tumor Of The Colon
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... ORPHA:100080
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Delayed CNS myelination, Gliosis OMIM:615095
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Necrotizing Enterocolitis
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia ORPHA:391673
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Decreas... OMIM:203800
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea OMIM:176000
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Diarrhea, Impaired T cell function, Hepatomegaly OMIM:201100
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gliosis OMIM:604484
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Splenomegaly, Diarrhea, Constipation, Infec... ORPHA:99745
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... ORPHA:509
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst, Gliosis, Peripheral demyelination OMIM:221770
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Leukocytosis, Vomiting, Aspiration pneumonia, Dysphagia, Throm... ORPHA:94093
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea ORPHA:100924
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Renal insufficiency, Myositis ORPHA:764
Ddost-Cdg
Gastroesophageal reflux, Constipation, Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... OMIM:603041
Poems Syndrome
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis... ORPHA:2905
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia OMIM:247410
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti... ORPHA:95427
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly OMIM:618541
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Colitis, Recurrent aphthous stomatitis, Abdominal pain OMIM:613960
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... ORPHA:411536
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Left ventri... OMIM:611209
Lichen Planopilaris
Hepatitis ORPHA:525
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function ORPHA:79319
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Diarrhea, Uveitis, Conjunctivitis, Anemia ORPHA:90321
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormalit... ORPHA:36426
Nk-Cell Enteropathy
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux ORPHA:263665
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear antibody positivity, Splenomega... ORPHA:50918
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Pa... ORPHA:79086
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Anemia, Leukopenia, Bone marrow... OMIM:603467
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts OMIM:617425
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp... ORPHA:368
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia ORPHA:589821
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leu... ORPHA:32960
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain ORPHA:65682
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough ORPHA:1334
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Splenomegaly, Abnormality of complement system, Hepatic steatosis, ... ORPHA:2348
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... ORPHA:488627
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea... OMIM:253260
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo... ORPHA:797
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundic... OMIM:613471
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D... OMIM:210900
Melas
Proteinuria, Diarrhea, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancre... ORPHA:550
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... OMIM:606003
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly ORPHA:2414
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... ORPHA:85410
Scheie Syndrome
Splenomegaly, Rhinitis, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... ORPHA:2314
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... ORPHA:728
Xanthinuria, Type Ii
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria OMIM:603592
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... ORPHA:100075
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Intrahepatic cholestasis, Hypercalciuria... OMIM:227810
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... ORPHA:634
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Autoimmunity, Decreased urinary potassium, Renal salt was... ORPHA:95409
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hepatocellu... OMIM:232200
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, C... OMIM:201475
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Dermatitis Herpetiformis
Eczema, Autoimmunity, Microcytic anemia ORPHA:1656
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis OMIM:300519
Reticular Dysgenesis
Diarrhea ORPHA:33355
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Behçet Disease
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased infla... ORPHA:117
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr... OMIM:222470
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Brachydactylous Dwarfism, Mseleni Type
Autoimmunity ORPHA:2619
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Eczema, Chronic diarrhea, Acute lymphoblastic leukemia, Gastroesoph... OMIM:223370
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia ORPHA:171442
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Stage 5 chronic kidney disease, Bone marrow hypocellularity OMIM:614378
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ... OMIM:614922
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia,... ORPHA:537
Mirage Syndrome
Anemia, Leukopenia, Adrenal insufficiency, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia,... OMIM:617053
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Diarrhea, Ileus, Porphyrinuria, I... ORPHA:79276
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Encephalitis Lethargica
Urinary incontinence, Increased circulating antibody level, Autoimmunity, Bowel incontinence ORPHA:83600
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic constipation, Chronic diarrhea, Poor suck, Feeding difficulties OMIM:617788
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert... OMIM:613177
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymp... ORPHA:3452
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Anemia OMIM:620366
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis OMIM:612852
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity ORPHA:293964
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Decr... ORPHA:2136
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhe... ORPHA:358
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... OMIM:211600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent pneumonia, De... OMIM:309900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Recurrent pneumonia, Decreased circulating total IgM, Micropenis, Decreased circulat... OMIM:607143
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Abnormal respiratory system physio... ORPHA:90062
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... OMIM:619743
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine, Hepatomegaly OMIM:607015
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif... OMIM:613489
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, A... ORPHA:411543
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis, Left ... ORPHA:324
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, ... OMIM:188400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting OMIM:618314
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... ORPHA:2357
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter ORPHA:3409
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Niemann-Pick Disease, Type C1
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Dysphagia, Sea-blue histiocyto... OMIM:257220
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Classic Galactosemia
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties ORPHA:79239
Gm1-Gangliosidosis, Type I
Splenomegaly, Abnormality of the urinary system, Vacuolated lymphocytes, Hepatomegaly OMIM:230500
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Mucopolysacchariduria, Chronic otitis media ORPHA:583
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Autoimmune antibody positivity, Hepatocellula... ORPHA:552
Variant Abeta2M Amyloidosis
Chronic kidney disease, Hepatic amyloidosis, Renal amyloidosis ORPHA:314652
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Splenomegaly, Hypercalciuria, Mucopolysacchariduria OMIM:618440
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... ORPHA:79282
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg... ORPHA:131
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Decreased circulating IgA level ORPHA:457485
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Spleno... ORPHA:567
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Mediastinal lymphadenopathy, Hematuria, Arthritis ORPHA:397
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Decreased liver function OMIM:608104
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Micronodular cirrhosis, Proteinuria, Gastrointestinal hemorrhage OMIM:192315
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Hennekam-Beemer Syndrome
Mastocytosis, Camptodactyly of finger, Clinodactyly of the 5th finger, Pneumonia ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, L... OMIM:274000
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Yao Syndrome
Diarrhea, Xerostomia, Abdominal pain OMIM:617321
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function ORPHA:42
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Pneumonia OMIM:608033
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op... ORPHA:90340
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Atopic dermatitis, Hypochromic microcytic anemia, Gliosis, Osteopetrosis, Thrombocytopenia ORPHA:3240
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... OMIM:617595
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Proprotein Convertase 1/3 Deficiency
Diarrhea OMIM:600955
Cronkhite-Canada Syndrome
Diarrhea, Anorexia, Abdominal pain ORPHA:2930
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalcinosis, Hypern... ORPHA:90041
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, J... ORPHA:93111
Limited Cutaneous Systemic Sclerosis
Autoimmunity ORPHA:220402
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Myeloma, Multiple
Paraproteinemia OMIM:254500
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Hepatic failure, Vomiting, Steatorrhea OMIM:602579
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Hyperhidrosis, ... ORPHA:79264
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Caffey Disease
Increased circulating antibody level ORPHA:1310
Radiation Proctitis
Hematochezia, Intestinal obstruction, Diarrhea, Tenesmus ORPHA:70475
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea ORPHA:71
Bullous Pemphigoid
Autoimmunity ORPHA:703
Adiposis Dolorosa
Constipation, Xerostomia, Diarrhea ORPHA:36397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,... ORPHA:83597
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Ascites, Renal ... OMIM:618183
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Anemia OMIM:208060
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency ORPHA:3222
Wells Syndrome
Eosinophilia ORPHA:901
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Vomiting OMIM:601110
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria ORPHA:324525
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Hydronephrosis,... ORPHA:35687
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Bowel incontinence, Ectopic kidney, Ab... ORPHA:3027
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Cheilitis, Proteinuria, Thrombocytopenia, Proximal renal tub... ORPHA:534
Cog4-Cdg
Intermittent diarrhea, Fatal liver failure in infancy, Recurrent infection of the gastrointestina... ORPHA:263501
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting OMIM:212140
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea ORPHA:1842
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Gliosis, Abnormal myelination ORPHA:280210
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis OMIM:231530
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Meningococcal Meningitis
Skin rash, Renal insufficiency, Projectile vomiting, Infectious encephalitis ORPHA:33475
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Delayed myelination, Vacuolated lymphocytes, Decreased circulating antibody level, ... OMIM:248500
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... ORPHA:100079
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypertension, Hypotension ORPHA:134
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, Sea-blue ... OMIM:607625
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circulating total IgM, Congenital megaure... ORPHA:369837
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... ORPHA:415
Bardet-Biedl Syndrome 9
Renal insufficiency OMIM:615986
Pemphigus Vulgaris
Autoimmunity ORPHA:704
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Constipation, Megacystis, Polyuria, Vomiting OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Constipation, Megacystis, Polyuria, Vomiting OMIM:304800
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Timothy Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Pneumonia, Bronchitis OMIM:601005
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Hepatic steatosis, Red-brown urine ORPHA:228305
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... OMIM:263700
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha... OMIM:602782
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Skin rash, Hepatomegaly ORPHA:53715
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Satoyoshi Syndrome
Diarrhea OMIM:600705
Stiff-Person Syndrome
Autoimmunity, Anemia OMIM:184850
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci... OMIM:241200
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma OMIM:194072
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria OMIM:300323
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Thymic hormone decreased, Micropenis OMIM:216400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... OMIM:266920
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, ... ORPHA:2237
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... ORPHA:761
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Chronic otitis media, ... ORPHA:261494
Ohdo Syndrome
Proteinuria OMIM:249620
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Holoprosencephaly
Hypoplasia of penis, Proteinuria, Abnormality of the spleen, Abnormality of the urinary system, G... ORPHA:2162
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... ORPHA:320
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Erythroderma ORPHA:313
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Infectious encephalitis ORPHA:1194
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Vomiting, Diarrhea, Abdominal pain OMIM:226300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Alg8-Cdg
Diarrhea, Vomiting, Feeding difficulties ORPHA:79325
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Arthritis, Constipation, G... ORPHA:732
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea ORPHA:92050
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recurrent pneumonia, Biliary cirrho... OMIM:613610
Japanese Encephalitis
Neutrophilia, Diarrhea, Increased circulating IgM level, Increased circulating antibody level, Vo... ORPHA:79139
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Hypotension, Thrombocytosis, An... ORPHA:20
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... ORPHA:1775
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Abdominal pain OMIM:106100
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis OMIM:133540
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... ORPHA:83617
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Autoimmune antibody positivity, Autoimmunity ORPHA:36913
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea OMIM:618805
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly, Abnormal myelination OMIM:617333
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Lymphocytosis, Cough, Elevated hepatic iron c... OMIM:619991
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Myocarditis, Arthritis ORPHA:221
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Vomiting, Constipation, Nocturia, Ren... OMIM:263800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Renal a... OMIM:617913
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Diarrhea, Hepatic necrosis, Vomiting, Myoglobinuria, Hepatic steatosis ORPHA:71212
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea ORPHA:411703
Kaposi Sarcoma
Diarrhea ORPHA:33276
Peripartum Cardiomyopathy
Autoimmunity, Myocarditis, Increased circulating interferon-gamma concentration, Left ventricular... ORPHA:563
Scleromyxedema
Abnormality of the kidney, Hypoperistalsis, Paraproteinemia, Gastroesophageal reflux, Dysphagia ORPHA:167635
Addison Disease
Normocytic anemia, Autoimmunity, Renal salt wasting, Decreased urinary potassium, Thiamine-respon... ORPHA:85138
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain ORPHA:100093
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Splenomegaly, J... ORPHA:3385
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
B4Galt1-Cdg
Diarrhea ORPHA:79332
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting OMIM:223900
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Red-brown urine, Red urine, ... ORPHA:95159
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Iron deficiency anemia, Palpit... ORPHA:100078
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... ORPHA:729
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Renal a... ORPHA:565612
Familial Pancreatic Carcinoma
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... ORPHA:1333
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Neutropenia ORPHA:79430
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci... OMIM:601678
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Autoimmunity ORPHA:91354
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Autoimmune antibody posi... ORPHA:99885
Teratoma, Pineal
Abnormal abdomen morphology, Polyuria OMIM:273120
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Dysphagia, Aminoaciduria, Albuminuria... OMIM:214100
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Gastroesophageal r... ORPHA:64
Analbuminemia
Hypotension OMIM:616000
Hereditary Angioedema Type 1
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea ORPHA:100050
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Dpm1-Cdg
Diarrhea, Gastrostomy tube feeding in infancy ORPHA:79322
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:373
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Gastro... OMIM:619488
Loeffler Endocarditis
Left ventricular hypertrophy, Pericarditis, Eosinophilia ORPHA:75566
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency ORPHA:1563
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Proteinuria OMIM:610965
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting OMIM:612780
Perry Syndrome
Hypotension ORPHA:178509
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Cirrhosis, Pulmonary ar... OMIM:215600
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Episodic abdominal pain, Constipation, Vomiting ORPHA:361
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Helix Syndrome
Renal insufficiency, Polyuria, Xerostomia, Nephrolithiasis, Hypocalciuria OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Mild proteinuria OMIM:619685
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Specific Granule Deficiency 2
Intractable diarrhea OMIM:617475
Familial Dysautonomia
Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, G... ORPHA:1764
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... ORPHA:309031
Glucagonoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Abdominal pain OMIM:174900
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency ORPHA:2318
Aicardi-Goutières Syndrome
Myositis, Autoimmunity, Chilblains, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic l... ORPHA:51
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity, Abnormality of the kidney ORPHA:166119
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Feeding difficulties ORPHA:427
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency ORPHA:220497
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea ORPHA:139411
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Mercury Poisoning
Interstitial pneumonitis, Acute kidney injury, Episodic vomiting, Nausea ORPHA:330021
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia ORPHA:431361
Grfoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells OMIM:226980
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea... ORPHA:261265
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Proteinuria, Multiple bladder diverticula ORPHA:2728
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis OMIM:617159
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis ORPHA:96147
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Monosomy 18Q
Micropenis, Decreased circulating IgA level ORPHA:1600
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Macrovesi... OMIM:619127
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency ORPHA:2165
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormal hemoglobin, Cryptorchidism, Infectious encephalitis,... ORPHA:847
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Cholestasis OMIM:609015
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Renal cortical cysts, Gastroesophageal reflux, Hyperechogenic k... ORPHA:397715
Incontinentia Pigmenti
Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Uveitis, Infectious encephalitis ORPHA:464
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Infectious encephalitis ORPHA:447788
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Gastroesophageal reflux, Stage 5... OMIM:619603
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, H... ORPHA:275761
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Vomiting ORPHA:348
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Limb joint contracture, Coxa valga, Splenomegaly, Delayed myelination... ORPHA:404454
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria OMIM:613677
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of... ORPHA:99889
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Abnormality of ... ORPHA:2750
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly ORPHA:3384
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Constipation, Decreased circulating IgA level, Decreased circula... OMIM:617062
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Chronic kidney disease, Stage 5 ... ORPHA:94059
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting OMIM:610768
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Cushing Disease
Increased urinary cortisol level, Acne, Leukocytosis, Recurrent cutaneous fungal infections, Decr... ORPHA:96253
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... ORPHA:96148
Myasthenia Gravis
Autoimmunity, Thymoma, Dysphagia OMIM:254200
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties OMIM:618050
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea ORPHA:324636
Hermansky-Pudlak Syndrome 1
Hematochezia, Renal insufficiency, Colitis, Inflammation of the large intestine OMIM:203300
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain OMIM:256700
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal circulating interleukin ... ORPHA:69665
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Granuloma, Infectious encephalitis, Increa... ORPHA:68
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Uric acid nephrolithiasis OMIM:300661
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe... OMIM:253200
Liddle Syndrome 1
Renal insufficiency OMIM:177200
Bartter Syndrome Type 4
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... ORPHA:89938
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Occipital Horn Syndrome
Cholestasis, Jaundice, Hepatitis, Esophagitis ORPHA:198
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria, Vomiting OMIM:618250
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Hypereosinophilia, Chronic diarrhea, ... OMIM:619472
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Chordee, Hypospadias, Renal dysplasia ORPHA:96179
Plague
Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymph... ORPHA:707
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... ORPHA:116
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato... ORPHA:77293
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria, Oral-pharyngeal dysphagia OMIM:616878
Pituitary Apoplexy
Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Localized Scleroderma
Fasciitis, Autoimmunity, Abnormality of the kidney, Uveitis, Arthritis, Gastroesophageal reflux, ... ORPHA:90289
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Autoimmune Polyendocrinopathy Type 1
Autoimmunity ORPHA:3453
Turcot Syndrome With Polyposis
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea ORPHA:99818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis, Cirrhos... OMIM:269700
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... ORPHA:500055
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumonia, Hepatosplenomegal... ORPHA:309282
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Gastroesophageal reflux, Intrahepatic bile duct dilatation, Hepatomegaly, Porta... OMIM:619534
Gm1 Gangliosidosis Type 1
Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Abnormal... ORPHA:646
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea ORPHA:3217
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea OMIM:300953
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Acute Transverse Myelitis
Gastroparesis, Urinary incontinence, Abscess, Autoimmunity, Systemic lupus erythematosus, Paralyt... ORPHA:139417
Citrullinemia Type Ii
Diarrhea, Vomiting ORPHA:247585
Antisynthetase Syndrome
Myositis, Skin rash, Autoimmunity, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dysphagia ORPHA:81
Bardet-Biedl Syndrome 20
Micropenis, Proteinuria, Pancreatitis OMIM:619471
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Abnormality of humoral immunity, Dysph... ORPHA:642
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal bleeding ORPHA:79076
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Adenoiditis, Respiratory tract infection, Splen... ORPHA:581
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Shwachman-Diamond Syndrome 2
Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency OMIM:617941
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Hepatomegaly OMIM:612132
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... ORPHA:913
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... OMIM:218330
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Dysphagia ORPHA:25
Velocardiofacial Syndrome
Pulmonary artery atresia, Hypoparathyroidism, Impaired T cell function, Unilateral primary pulmon... OMIM:192430
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema... ORPHA:324625
Eisenmenger Syndrome
Hepatomegaly, Brain abscess, Renal insufficiency, Hypochromic microcytic anemia, Iron deficiency ... ORPHA:97214
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux ORPHA:140952
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly OMIM:617809
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis OMIM:308300
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cardiomegaly, Sple... ORPHA:75565
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep... OMIM:256810
Non-Functioning Pituitary Adenoma
Hypotension, Anemia of inadequate production ORPHA:91349
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition ORPHA:96180
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Abnormal myelination, Polycythemia, Astrocytosis ORPHA:309854
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Mucopolysaccharidosis, Type Iiid
Diarrhea, Dysphagia, Tube feeding OMIM:252940
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Gast... ORPHA:904
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Aspiration pneumonia OMIM:619167
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis OMIM:301220
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Chronic Thromboembolic Pulmonary Hypertension
Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Inflammation of the large inte... ORPHA:70591
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Decreased circulating cortisol level, Pneumonia ORPHA:90790
Alagille Syndrome 1
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ren... OMIM:118450
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function OMIM:176690
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma ORPHA:73230
Infantile Systemic Hyalinosis
Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Mitchell-Riley Syndrome
Diarrhea OMIM:615710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Chronic diarrhea, Horseshoe kidney OMIM:617140
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Sandhoff Disease
Chronic diarrhea, Episodic abdominal pain OMIM:268800
Reactive Arthritis
Inflammation of the large intestine, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain ORPHA:29207
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Gastroesophageal reflux, Constipation, Ve... OMIM:616580
Acrodermatitis Enteropathica
Chronic diarrhea, Poor appetite, Anorexia ORPHA:37
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Extracranial Carotid Artery Aneurysm
Autoimmunity ORPHA:494424
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia OMIM:620358
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Calciphylaxis
Stage 5 chronic kidney disease ORPHA:280062
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Atopic dermatitis, Joint contracture of the hand, Congenital fin... ORPHA:466768
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Portal hypertension, Abnormal renal morp... OMIM:194050
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Myocarditis, Diarrhea, Vomiting, Glycosuria, Acute kidney injury ORPHA:466677
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Pemphigus Foliaceus
Autoimmunity ORPHA:79481
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Farber Disease
Hepatic failure, Chronic diarrhea, Feeding difficulties ORPHA:333
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Glossopharyngeal Neuralgia
Autoimmunity ORPHA:221098
Rothmund-Thomson Syndrome Type 1
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221008
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Enthesitis, Renal phosphate wasting, Tooth abs... ORPHA:289176
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena ORPHA:464321
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Steato... OMIM:618268
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea OMIM:601675
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Diarrhea, Vomiting ORPHA:2909
Mednik Syndrome
Diarrhea OMIM:609313
Rothmund-Thomson Syndrome Type 2
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding ORPHA:221016
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Vomiting ORPHA:79328
Costello Syndrome
Renal insufficiency, Lymphangiectasis OMIM:218040
Rat-Bite Fever
Diarrhea, Vomiting, Parotitis ORPHA:31205
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Gastroesophageal reflux, Vomiting, Const... ORPHA:652
Pearson Marrow-Pancreas Syndrome
Anorexia, Chronic diarrhea, Vomiting, Steatorrhea, Hepatic failure, Exocrine pancreatic insuffici... OMIM:557000
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Cirrhosis, Nephronophthisis OMIM:614099
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Arthritis, Constipa... ORPHA:93672
Lipodystrophy, Familial Partial, Type 7
Polyuria, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia OMIM:606721
Alexander Disease
Infectious encephalitis ORPHA:58
Pmm2-Cdg
Pericarditis, Proteinuria, Abnormal liver parenchyma morphology, Nephrotic syndrome, Hepatic fibr... ORPHA:79318
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea OMIM:613989
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Encopresis, Proteinuria, Constipation OMIM:616682
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Ogden Syndrome
Diarrhea, Dysphagia, Feeding difficulties, Vomiting, Tube feeding OMIM:300855
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux ORPHA:3164
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Diarrhea, Constipation ORPHA:653
Sapho Syndrome
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain ORPHA:793
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Chronic diarrhea OMIM:619005
Hurler Syndrome
Chronic diarrhea, Feeding difficulties ORPHA:93473
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Re... ORPHA:293987
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Decreased sweating due to autonomic dysfunction, Aspiration pneumonia 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
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Nasoga... ORPHA:273
Deeah Syndrome
Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency OMIM:619004
Turner Syndrome Due To Structural X Chromosome Anomalies
Autoimmunity, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia, Biliary ... ORPHA:99413
Mosaic Monosomy X
Autoimmunity, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia, Biliary ... ORPHA:99228
Monosomy X
Autoimmunity, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia, Biliary ... ORPHA:99226
Turner Syndrome
Autoimmunity, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia, Biliary ... ORPHA:881
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Gastroesophageal reflux, Dysphagia, Nausea, Abnor... ORPHA:99921
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Helsmoortel-Van Der Aa Syndrome
Chronic diarrhea, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Episodi... OMIM:615873
Leukocyte Adhesion Deficiency, Type I
Chronic diarrhea OMIM:116920
Multiple Endocrine Neoplasia Type 4
Diarrhea, Esophagitis, Episodic abdominal pain ORPHA:276152
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Gastroesopha... ORPHA:199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia, Tracheomalac... ORPHA:444077
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... OMIM:620305
Abetalipoproteinemia
Chronic diarrhea, Vomiting, Steatorrhea ORPHA:14
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Moderate albuminuria OMIM:614231
Dubowitz Syndrome
Chronic diarrhea ORPHA:235
Prolactinoma
Hypotension ORPHA:2965
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Increased circulating prol... ORPHA:438213
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Secretory diarrhea, Feeding difficulties, Hepatic ... OMIM:619573
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Asp... ORPHA:93924
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Asthma, Pneumonia, Otitis media ORPHA:353281
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353277
Nmda Receptor Encephalitis
Diarrhea, Vomiting ORPHA:217253
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Congenital hypothyroidism, Recurrent otitis media,... OMIM:147920
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Nijmegen Breakage Syndrome
Chronic diarrhea ORPHA:647
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Postaxial hand polydactyly, Duplication of phalanx of hall... ORPHA:434179
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain ORPHA:2929
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, G... ORPHA:500150
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
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Feeding difficulties, Exocrine pancreatic insufficiency ORPHA:2255
Ectodermal Dysplasia-Skin Fragility Syndrome
Chronic diarrhea ORPHA:158668
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Aspartylglucosaminuria
Diarrhea OMIM:208400
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Yunis-Varon Syndrome
Pulmonary arterial hypertension, 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
Ptprctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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