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Gene: Bcl2l11 MGI:1197519

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Gene Summary

Name:
BCL2 like 11
Synonyms:
Bim,  Bod,  1500006F24Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Bcl2l11em1(IMPC)H HOM Early adult 5.90×10-05
increased grip strength Bcl2l11em1(IMPC)H HOM Early adult 7.96×10-05
increased leukocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 1.28×10-08
increased spleen weight Bcl2l11em1(IMPC)H HOM Early adult 4.42×10-06
decreased mean corpuscular hemoglobin Bcl2l11em1(IMPC)H HOM Early adult 4.93×10-05
increased lymphocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 7.59×10-08
increased large unstained cell number Bcl2l11em1(IMPC)H HOM Early adult 4.68×10-06
increased erythrocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 7.66×10-05
increased circulating potassium level Bcl2l11em1(IMPC)H HOM Early adult 6.07×10-06

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Viewing: all phenotypes

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 Bcl2l11 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.

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

The table below shows human diseases predicted to be associated to Bcl2l11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... OMIM:614380
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... OMIM:610163
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 19
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis... OMIM:615617
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
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
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... OMIM:102700
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglob... ORPHA:98813
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... ORPHA:37748
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Lymp... OMIM:618495
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positiv... OMIM:615934
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch... OMIM:616005
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, ... OMIM:618261
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... ORPHA:91139
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Elevated circulating C-r... ORPHA:449400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Vasculitis, Ly... ORPHA:83313
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,... ORPHA:375
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence o... ORPHA:277
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Q Fever
Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy... ORPHA:781
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic ... OMIM:615816
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent viral upper res... OMIM:615707
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Abnormal lymp... ORPHA:99867
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... OMIM:617575
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Systemic Lupus Erythematosus 17
Lymphopenia, Hypertensive crisis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, T... OMIM:301080
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Diffuse alveolar hemorrhage, Antinu... ORPHA:99931
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ... OMIM:618394
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... ORPHA:90159
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti... OMIM:614699
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Pate... OMIM:617303
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... ORPHA:79087
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti... ORPHA:449395
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Bronchiectasi... ORPHA:1572
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Nephrot... ORPHA:93126
Insulin-Resistance Syndrome Type B
Osteoarthritis, Leukopenia, Increased circulating IgG level, Hypoalbuminemia, Hypotriglyceridemia... ORPHA:2298
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi... ORPHA:183
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art... ORPHA:575
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Subarachno... OMIM:243700
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Decreased circulating complement C4 concentration, Serositis, Hemoly... ORPHA:536
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutrop... OMIM:301078
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... OMIM:616100
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, H... ORPHA:91138
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... ORPHA:400
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Chronic mucocutaneous candidias... OMIM:613953
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Candidiasis, Familial, 1
Alopecia, Cutaneous anergy OMIM:114580
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Autoimmu... ORPHA:36412
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Preeclampsia
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Elevated circulatin... ORPHA:275555
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, Recurrent bacterial infections OMIM:619437
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti... ORPHA:90060
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Cryoglobulinem... ORPHA:33226
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin... OMIM:620210
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Abnormality... ORPHA:229717
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia... OMIM:619510
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... OMIM:607624
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... OMIM:615966
Prolidase Deficiency
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... OMIM:170100
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Extracranial Carotid Artery Aneurysm
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... ORPHA:494424
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthr... OMIM:616414
Sneddon Syndrome
Antiphospholipid antibody positivity, Cerebral hemorrhage, Hypertension, Decreased circulating to... OMIM:182410
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne... ORPHA:169160
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vascular dilatation,... ORPHA:3287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... OMIM:617780
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circu... OMIM:613179
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Immunodeficiency 22
Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating tota... OMIM:615758
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu... ORPHA:47612
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Splenomegaly, Vasculitis, Cardiom... OMIM:225750
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:616730
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h... OMIM:613280
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Vasculitis, Arthritis,... ORPHA:343
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma... ORPHA:47
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con... ORPHA:50918
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced... OMIM:242860
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar ... OMIM:616050
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
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
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card... OMIM:618348
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... OMIM:619774
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame... OMIM:607616
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... OMIM:615846
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne... ORPHA:171
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro... OMIM:603552
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgita... ORPHA:505248
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immunodeficiency 101 (Varicella Zoster Virus-Specific)
Cerebral vasculitis OMIM:619872
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Primary Erythromelalgia
Leukemia, Vasculitis, Abnormality of thrombocytes ORPHA:90026
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... OMIM:616744
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,... ORPHA:448237
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Autoimmunity, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroper... ORPHA:449432
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... OMIM:618935
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu... OMIM:235400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy... ORPHA:79312
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric... OMIM:249660
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... ORPHA:340
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks OMIM:615139
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundic... ORPHA:108
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... OMIM:619752
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Primary Biliary Cholangitis
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Conj... ORPHA:186
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h... OMIM:152800
Omenn Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lym... ORPHA:39041
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Transient ischemic attack, Abnormal immunoglobuli... OMIM:242900
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity ORPHA:98827
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... ORPHA:391487
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... ORPHA:99829
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Elevated circulating creat... ORPHA:732
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic anemia, ... ORPHA:398124
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Sterile absc... OMIM:618282
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... ORPHA:848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... OMIM:601457
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... OMIM:313900
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr... ORPHA:54057
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... OMIM:609981
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... ORPHA:2902
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... ORPHA:2035
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia OMIM:193670
Catastrophic Antiphospholipid Syndrome
Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,... ORPHA:464343
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia OMIM:269600
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia... ORPHA:760
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom... ORPHA:77259
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Hepatospl... OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi... OMIM:180300
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... OMIM:616740
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... OMIM:614576
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Buerger Disease
Vasculitis ORPHA:36258
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Rift Valley Fever
Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Retinal hemorrhage, Hemat... ORPHA:319251
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre... ORPHA:90362
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Abcd Syndrome
Polycythemia OMIM:600501
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Overlap Myositis
Abnormality of the kidney, Elevated circulating creatine kinase concentration, Autoimmunity, Anti... ORPHA:206572
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, S... ORPHA:90064
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N... ORPHA:289916
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi... ORPHA:2331
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal... OMIM:612840
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymphocytopenia... OMIM:615518
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop... OMIM:615387
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... OMIM:612526
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Epistaxis, Myocardial infarction, Giant pl... OMIM:155100
Myeloma, Multiple
Paraproteinemia OMIM:254500
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthrit... ORPHA:342
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni... ORPHA:27
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegal... OMIM:617591
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Hepatomegaly, Elevated circulating creatine kinase concentration, Thro... OMIM:614727
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... OMIM:608184
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu... OMIM:618886
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation i... ORPHA:221139
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hype... OMIM:251000
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepat... OMIM:613385
Huntington Disease
Gliosis OMIM:143100
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Chronic kidney disease, Elevated circulating creatinine concentration, Renal... OMIM:617056
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Abnormality of the kidne... ORPHA:90291
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... OMIM:243500
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ... ORPHA:83471
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... ORPHA:227990
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... OMIM:614376
L-2-Hydroxyglutaric Aciduria
Gliosis OMIM:236792
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder ORPHA:2571
Atelis Syndrome 1
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leuko... OMIM:620184
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... ORPHA:2968
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Noonan Syndrome 12
Tetralogy of Fallot, Atopic dermatitis, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... OMIM:616433
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Pat... ORPHA:2123
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension OMIM:616069
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... ORPHA:117
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer... OMIM:603553
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the live... ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased p... OMIM:603585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... ORPHA:227982
Lassa Fever
Shock, Increased circulating IgM level, Conjunctivitis, Oliguria ORPHA:99824
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Leukopenia... ORPHA:297
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Coarctation of a... ORPHA:101028
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutane... OMIM:147060
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormality of thrombocytes, ... ORPHA:397
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... OMIM:617729
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Reduced c... ORPHA:90363
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Agenesis of corpus callosum, Gliosis ORPHA:168486
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Atrial fibrillation, Autoimmunity, Keratitis, Splenomegaly, Anti-thyr... ORPHA:525731
Microcephaly 10, Primary, Autosomal Recessive
Agenesis of corpus callosum, Gliosis OMIM:615095
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... ORPHA:2686
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ... OMIM:606054
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... ORPHA:230
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia ORPHA:67048
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Chol... ORPHA:449563
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic ... OMIM:251260
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Jau... ORPHA:90033
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula... OMIM:605309
Pick Disease Of Brain
Gliosis OMIM:172700
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... ORPHA:91500
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Persistent left superior... OMIM:619151
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Methylmalonic aciduria, Hype... OMIM:614857
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... ORPHA:182050
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio... OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... OMIM:620010
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Ret... ORPHA:88
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... ORPHA:319218
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increased circu... ORPHA:69126
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Raynaud ph... OMIM:607944
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Auto... ORPHA:809
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop... ORPHA:520
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Alg12-Cdg
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... ORPHA:79324
Poems Syndrome
Lipodystrophy, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly ORPHA:2905
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Increased circulating interleukin 6 concentration, Elevated circulatin... ORPHA:90051
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, System... ORPHA:90036
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Localized Scleroderma
Fasciitis, Abnormality of the kidney, Autoimmunity, Raynaud phenomenon, Vasculitis, Uveitis, Arth... ORPHA:90289
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... OMIM:105200
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... ORPHA:169105
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral ventricle dilatation, Gliosi... ORPHA:79243
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Hepatomeg... ORPHA:77297
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Stuve-Wiedemann Syndrome 2
Eczema, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Th... OMIM:619751
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Elevated circul... ORPHA:829
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... OMIM:191900
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Ataxia-Telangiectasia
Conjunctival telangiectasia, Decreased circulating IgG level, Sinusitis, Elevated circulating alp... OMIM:208900
Shigellosis
Hyponatremia, Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis... ORPHA:810
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... OMIM:209920
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Autoimmunity, Myocardia... ORPHA:221
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Thrombocytopenia ORPHA:290
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Uveitis, Hypertension, Conjunctivitis, Increased ... ORPHA:90321
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, ... ORPHA:90045
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Skin rash OMIM:601979
Mirage Syndrome
Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Hemimegalencephaly
Gliosis ORPHA:99802
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Stroke-like episode, Nephrotic syndrome, Car... OMIM:212065
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Thrombocytopenia, Patent du... OMIM:617021
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Alopecia Areata 1
Autoimmunity OMIM:104000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co... ORPHA:210136
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Vascular calcification OMIM:231000
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice ORPHA:79238
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... ORPHA:99826
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensio... OMIM:212350
Avian Influenza
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... ORPHA:454836
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Carotid artery ste... OMIM:210250
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Increased circulating antibody level OMIM:178500
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... OMIM:619573
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop... ORPHA:292
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia ORPHA:295
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... OMIM:214500
Japanese Encephalitis
Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level... ORPHA:79139
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis OMIM:213200
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... ORPHA:85212
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Imbalanced hemoglobin... ORPHA:330015
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Aspergillosis
Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Eosinophilia, Keratitis, Increase... ORPHA:1163
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroid peroxid... ORPHA:228426
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... OMIM:185070
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Stroke, Cer... ORPHA:449285
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Th... ORPHA:139402
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:614520
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy... ORPHA:398063
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fi... OMIM:613989
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropenia, Recurren... OMIM:617475
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90037
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leuk... ORPHA:90038
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Gliosis OMIM:221770
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Aminoaciduria, St... OMIM:249270
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis OMIM:604484
Fanconi Anemia, Complementation Group F
Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Renal hypoplasia, Leukopenia, Microphallus... OMIM:603467
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia OMIM:614171
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... ORPHA:85443
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor... ORPHA:30
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart... ORPHA:508542
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase con... OMIM:301056
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Skin rash, Megaloblastic anemia, Cystathionin... OMIM:277380
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Gliosis OMIM:300215
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,... OMIM:619525
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, Polyc... OMIM:606812
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin... OMIM:256500
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Spinocerebellar Ataxia, Autosomal Recessive 27
Gliosis OMIM:618369
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... OMIM:609939
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Left ventricular hypertrophy, Elevated circulating ... OMIM:242840
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleukin 6 concentrati... ORPHA:160
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia,... ORPHA:99828
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Leukocyt... OMIM:615895
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume OMIM:300048
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis OMIM:105550
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... ORPHA:464329
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Leukoencephalopathy With Vanishing White Matter 1
Gliosis OMIM:603896
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Gaisböck Syndrome
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Increa... ORPHA:90041
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Lujo Hemorrhagic Fever
Shock, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating... ORPHA:319213
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Pate... ORPHA:84064
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Slc35A1-Cdg
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... ORPHA:238459
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Patent ductus arteriosus, Thrombocytop... OMIM:251290
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Patent ductus... OMIM:606003
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... OMIM:613990
Holocarboxylase Synthetase Deficiency
Eczema, Hyperammonemia, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... OMIM:613327
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu... ORPHA:508533
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... OMIM:232220
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a... ORPHA:77261
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hyperammonemia... ORPHA:1667
Intermediate Osteopetrosis
Osteomyelitis, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:210110
Hemochromatosis, Type 2A
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Congestive heart failur... OMIM:602390
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Abnormal renal corticom... OMIM:617397
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec... ORPHA:293978
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumon... OMIM:616651
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c... ORPHA:79330
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me... ORPHA:35858
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... ORPHA:761
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating creatinine concent... OMIM:608104
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... OMIM:251110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, St... ORPHA:49827
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se... OMIM:612301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,... OMIM:222300
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Anti-acetylcholine recepto... ORPHA:589
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections, Autoimmunity ORPHA:454
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Spinocerebellar Ataxia 17
Gliosis OMIM:607136
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Necrotizing Enterocolitis
Hyponatremia, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Ascites, T... ORPHA:391673
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... ORPHA:3260
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Antinuclear antibody positivity, Erythema ... OMIM:613471
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Congestive he... ORPHA:3386
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia OMIM:615597
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Stt3B-Cdg
Micropenis, Thrombocytopenia ORPHA:370924
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Gliosis OMIM:214150
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon OMIM:615750
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, He... ORPHA:199299
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Epistaxis ORPHA:46488
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Caffey Disease
Increased circulating antibody level ORPHA:1310
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ... ORPHA:188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... OMIM:618278
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T... OMIM:274000
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... OMIM:227645
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Arthritis, Cirrhosis, Acute he... ORPHA:905
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... ORPHA:247353
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... ORPHA:682
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, Hy... OMIM:212750
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Paraproteinemia ORPHA:171442
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... OMIM:619183
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co... ORPHA:99901
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circulating IgE level, Chronic otitis m... ORPHA:2314
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Telangiectasia, Acute lymphoblastic leukemia, Micropenis, ... OMIM:606593
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of t... OMIM:222470
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Pa... ORPHA:811
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Thrombocytopenia, Nephro... OMIM:260400
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropen... OMIM:616271
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... ORPHA:676
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity OMIM:612227
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... OMIM:619743
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Thor... ORPHA:365
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Microcytic anemi... OMIM:257200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Cherry red spot of the macula OMIM:228000
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... ORPHA:793
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Pat... OMIM:227646
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Decr... ORPHA:2136
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Anemia ORPHA:97362
Frontotemporal Dementia With Motor Neuron Disease
Gliosis ORPHA:275872
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Lympha... ORPHA:99812
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f... ORPHA:420741
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:306400
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Spastic Paraplegia 50, Autosomal Recessive
Gliosis OMIM:612936
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... OMIM:246400
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Abn... OMIM:227650
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... OMIM:600901
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardio... OMIM:611126
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin OMIM:613490
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis ORPHA:171876
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia... ORPHA:567
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Aicardi-Goutières Syndrome
Myositis, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Car... ORPHA:51
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Bronchiectasis, Decreased circulating t... OMIM:210900
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Lymphadenopathy, Decreased circulating antibody level, Hepatos... ORPHA:353298
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Megalo... ORPHA:79282
Leigh Syndrome
Gliosis OMIM:256000
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Gliosis OMIM:616239
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Autoimmunity, Autoimmune ... ORPHA:36913
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Acquired Purpura Fulminans
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage,... ORPHA:49566
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thromb... OMIM:301074
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E... OMIM:214900
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein c... ORPHA:355
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, T... OMIM:616589
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Abnormality of neutrophils, T... ORPHA:1775
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Abnor... ORPHA:2348
Intellectual Developmental Disorder, X-Linked 12
Gliosis OMIM:300957
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... ORPHA:634
Huntington Disease-Like 1
Gliosis ORPHA:157941
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:83317
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia OMIM:258360
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Vascular dilatation, Splenomegaly, ... OMIM:216360
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis ORPHA:457240
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis OMIM:614498
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... ORPHA:90003
Dermatitis Herpetiformis
Autoimmunity, Eczema, Microcytic anemia ORPHA:1656
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho... ORPHA:75234
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthisis OMIM:615630
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Decreased circulating total IgM, Micr... OMIM:607143
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Ascite... ORPHA:974
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Hypercal... OMIM:557000
Holocarboxylase Synthetase Deficiency
Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hy... OMIM:253270
Vici Syndrome
Decreased circulating IgG2 level, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, Decre... ORPHA:1493
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... ORPHA:79329
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Gliosis OMIM:604377
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal ci... ORPHA:79277
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Eczema, Acute lymphoblastic leukemia, Otitis media, Hypocholesterol... OMIM:223370
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... OMIM:617052
Noonan Syndrome 4
Ureteral duplication, Pulmonic stenosis, Hypertrophic cardiomyopathy, Hydronephrosis, Thrombocyto... OMIM:610733
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Mediastinal lymphadenopathy, A... ORPHA:79128
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, L... OMIM:611209
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Increased circulating IgG lev... OMIM:619472
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,... OMIM:604173
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections ORPHA:51890
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Myocardial... ORPHA:36426
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Cyclic neutropenia, Chronic pancr... OMIM:232240
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Elevated circul... OMIM:276700
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... OMIM:614946
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis OMIM:256600
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... ORPHA:797
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis OMIM:613987
Fanconi Anemia, Complementation Group B
Aplastic anemia, Renal agenesis, Patent ductus arteriosus, Coarctation of aorta, Micropenis, Thro... OMIM:300514
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Elevat... ORPHA:116
Encephalitis Lethargica
Autoimmunity, Bradycardia, Increased circulating antibody level, Urinary incontinence ORPHA:83600
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Ogden Syndrome
Inguinal hernia, Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron... OMIM:300855
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Aut... ORPHA:95409
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Essential Thrombocythemia
Transient ischemic attack, Abnormality of thrombocytes, Myocardial infarction, Abnormal cerebral ... ORPHA:3318
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Iridoc... OMIM:181000
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Renal agenesis, Hypospadias, Pure red cell aplasia... ORPHA:124
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Digeorge Syndrome
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hep... OMIM:188400
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... OMIM:602668
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia OMIM:620296
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Gliosis OMIM:619847
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatin... ORPHA:565612
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections ORPHA:764
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... ORPHA:83617
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosis, Jaundice, Dilated card... ORPHA:20
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... ORPHA:134
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha... OMIM:602782
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis OMIM:169500
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Noct... OMIM:223360
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of... ORPHA:79086
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension OMIM:620365
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Patent ductus arteriosus,... OMIM:616737
Urachal Cyst
Abdominal mass, Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, ... ORPHA:488
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter ORPHA:3409
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopa... OMIM:230500
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Axial malrotation of the kidney, Tetralogy of Fallot... ORPHA:3320
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia OMIM:277480
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Farber Disease
Intrahepatic cholestasis with episodic jaundice, CNS foam cells, Thrombocytopenia, Lymphadenopath... ORPHA:333
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... ORPHA:3132
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the kidney, Raynau... ORPHA:167635
Stiff-Person Syndrome
Hypertension, Tachycardia, Autoimmunity, Anemia OMIM:184850
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Increased size of nasopharyngeal adenoids, Hiatus ... OMIM:619769
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Prominent veins on tr... ORPHA:79083
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia ORPHA:3002
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Autoimmune antibody positivity, Abnormal circ... ORPHA:552
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Elevated circulating C-reactiv... ORPHA:70591
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con... OMIM:612852
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Autoimmunity, Mucosal telangiectasiae ORPHA:220402
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity, Increased circulating free fa... ORPHA:293964
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestiv... OMIM:235200
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Ascites, Anemia ORPHA:79325
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Ivic Syndrome
Patent ductus arteriosus, Leukocytosis, Tetralogy of Fallot, Thrombocytopenia OMIM:147750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Elevated circu... OMIM:263700
Pontocerebellar Hypoplasia, Type 2A
Gliosis OMIM:277470
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Hemat... ORPHA:853
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Recurrent aspiration pneumonia, Thrombocy... OMIM:230900
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, Ascites, Th... OMIM:608013
Bernard-Soulier Syndrome
Partially duplicated kidney, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hemat... ORPHA:274
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... OMIM:614074
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Mediastinal lymphaden... ORPHA:379
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Heart murmur, Intrac... ORPHA:163979
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Myocardial infar... ORPHA:3452
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... OMIM:239200
Addison Disease
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Urethral stenosis,... OMIM:305000
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Decreased circulating IgA level ORPHA:457485
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... OMIM:618775
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... ORPHA:358
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Niemann-Pick Disease, Type C1
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histi... OMIM:257220
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio... ORPHA:31150
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Microcytic ... ORPHA:99843
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephro... ORPHA:369837
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Lacunar stroke, Mucopo... OMIM:618440
Machado-Joseph Disease
Gliosis OMIM:109150
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast... ORPHA:509
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Rhinitis, Mucopolysacchariduria ORPHA:93474
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Atopic dermatitis, T... ORPHA:3240
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... OMIM:253260
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan su... OMIM:607015
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... ORPHA:71493
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... ORPHA:1655
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Pollakisuria,... ORPHA:647
Monosomy 18Q
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... ORPHA:1600
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Mediastinal lymphadenopathy, Peritonit... ORPHA:1546
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop... ORPHA:79292
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis ORPHA:280210
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... OMIM:300842
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveiti... OMIM:612387
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Sea-blue histiocytosis OMIM:230600
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Patent ductus arteriosus,... ORPHA:487796
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Alopecia of scalp, Decreased testicular size OMIM:201100
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Kleefstra Syndrome Due To A Point Mutation
Gliosis ORPHA:261652
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Dubowitz Syndrome
Hypospadias, Eczema, Abnormality of neutrophils, Thrombocytopenia, Acute lymphoblastic leukemia, ... ORPHA:235
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Thrombocytopenia ORPHA:96181
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Niemann-Pick Disease, Type C2
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-... OMIM:607625
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Anemia, Hypoalbuminemia, Con... ORPHA:67
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Aortic valve stenosis, Bone marrow hy... ORPHA:2308
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestina... OMIM:612199
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Chronic otitis m... ORPHA:261250
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Micropenis, T... OMIM:619005
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Oliguria... ORPHA:220393
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... ORPHA:534
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal circulating interleukin ... ORPHA:69665
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Familial Tumoral Calcinosis
Nephrocalcinosis, Hepatomegaly, Skin rash, Splenomegaly ORPHA:53715
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis, Mucopolysacchariduria, Arteriovenous malformation, Ascites ORPHA:584
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr... ORPHA:64
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis ORPHA:251066
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Recon Progeroid Syndrome
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia OMIM:620370
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... ORPHA:436252
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... OMIM:607765
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Gliosis OMIM:617193
Chops Syndrome
Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Anomalous pulmonary venous return, Aspi... OMIM:616368
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation OMIM:612918
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Parkinson Disease 1, Autosomal Dominant
Gliosis OMIM:168601
Leigh Syndrome
Agenesis of corpus callosum, Gliosis ORPHA:506
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Liddle Syndrome
Hypokalemia ORPHA:526
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Dilatation of the cerebral artery, Arterial rupture, Thrombocytopenia OMIM:612394
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepatocellula... ORPHA:90062
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis OMIM:618321
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity ORPHA:363558
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Thrombocytopenia, Anemia ORPHA:261323
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Congenital Analbuminemia
Increased circulating antibody level, Low pulse pressure ORPHA:86816
Atelis Syndrome 2
Patent ductus arteriosus, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic s... OMIM:620185
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Chronic decreased circulating IgG1 OMIM:300953
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ... OMIM:615512
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:600376
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Skin rash, Elevated circulating creatine kinase concentration, Au... ORPHA:81
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity, Abnormality of the kidney ORPHA:166119
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Jaundice, Hyperkalemia ORPHA:90790
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Autoimmunity, Hypotension ORPHA:91354
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:276621
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundi... ORPHA:131
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Micropenis, T... OMIM:619004
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Autoim... ORPHA:139417
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97282
Nk-Cell Enteropathy
Hematochezia, Increased T cell count ORPHA:263665
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Thrombocytopenia OMIM:112200
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... OMIM:615947
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly... ORPHA:30391
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Patent ductus arteriosus, Eczema OMIM:618162
Cockayne Syndrome Type 3
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma, Telangiectasia OMIM:601675
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
Papillorenal Syndrome
Gliosis OMIM:120330
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypoph... OMIM:227810
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating porphyrin concentrati... ORPHA:95159
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Autoimmunity, Pneumonia ORPHA:1303
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Jacobsen Syndrome
Annular pancreas, Hypospadias, Thrombocytopenia OMIM:147791
Tay-Sachs Disease
Gliosis ORPHA:845
Adiposis Dolorosa
Recurrent skin infections, Arthritis, Telangiectasia of the skin, Autoimmunity ORPHA:36397
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:187300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Renal hypoplasia, Azotemia, Micropenis, Hepatic steatosis OMIM:619321
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis OMIM:252160
Hereditary Late-Onset Parkinson Disease
Gliosis ORPHA:411602
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid... ORPHA:567983
Fibular Hemimelia
Renal dysplasia, Thrombocytopenia ORPHA:93323
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis OMIM:252150
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:29072
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ne... OMIM:269700
D-Bifunctional Protein Deficiency
Gliosis OMIM:261515
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Calcification of the aorta, Mitral stenosis OMIM:231005
Roberts Syndrome
Thrombocytopenia, Long penis, Polycystic kidney dysplasia ORPHA:3103
Cystinosis
Hypokalemia, Portal hypertension, Hypophosphatemia ORPHA:213
Angioedema, Hereditary, 1
Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple... OMIM:106100
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Nephrolithiasis, Cardiomyop... OMIM:608594
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Leukopenia, Urinary retention, Hypertrophic cardiomyopathy, Anemia ORPHA:1328
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... ORPHA:14
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Glossopharyngeal Neuralgia
Autoimmunity, Jaw claudication, Syncope, Bradycardia, Vascular dilatation ORPHA:221098
Autoimmune Polyendocrinopathy Type 1
Chronic mucocutaneous candidiasis, Autoimmunity, Abnormal cerebral vascular morphology ORPHA:3453
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Gliosis OMIM:300868
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Gliosis OMIM:615873
Cysticercosis
Iridocyclitis, Stroke, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Aorti... ORPHA:666
Trichinellosis
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery occlusion,... ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Increased circulating antibody level OMIM:606002
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst OMIM:615636
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Hypophosphatemia, Lymphadenopathy, Hypocal... ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Gliosis ORPHA:404454
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia ORPHA:251274
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Hypertension, Aortic root aneurysm, Autoimmunity ORPHA:449291
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi... OMIM:619534
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Patent ductus ar... OMIM:163950
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Congenital Disorder Of Deglycosylation 1
Gliosis OMIM:615273
Myasthenia Gravis
Autoimmunity, Thymoma OMIM:254200
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:881
Ehlers-Danlos Syndrome, Periodontal Type, 1
Prominent superficial veins, Periodontitis, Autoimmunity OMIM:130080
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Cerebrotendinous Xanthomatosis
Gliosis ORPHA:909
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta OMIM:617088
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level ORPHA:320
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... ORPHA:93284
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gliosis ORPHA:268261
Gabriele-De Vries Syndrome
Agenesis of corpus callosum, Gliosis ORPHA:506358
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level OMIM:615474
Cockayne Syndrome
Gliosis ORPHA:191
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Gliosis OMIM:124000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Bilateral renal dysplasia, Unilateral renal agenes... ORPHA:500150
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Partial agenesis of the corpus callosum, Gliosis OMIM:220111
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Mercury Poisoning
Hypokalemia ORPHA:330021
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Chondrocalcinosis, Hypomagnesemia OMIM:263800
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Hypokalemia, Increased C-peptide level ORPHA:769
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia ORPHA:2237
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Hypokalemia OMIM:170390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Camptodactyly, Joint contracture of the hand, Decreased circulating r... OMIM:201750
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Hypokalemia, Increased circu... ORPHA:508
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circula... ORPHA:466677
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Nelson Syndrome
Hypokalemia ORPHA:199244
Proximal Renal Tubular Acidosis
Hypokalemia, Enamel hypomineralization, Bicarbonaturia ORPHA:47159
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Cystocele, Cigarette-paper scars, Hypokalemia, Uterine prolapse, Umbilical hernia ORPHA:286

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 Bcl2l11

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 Bcl2l11.

No publications found that use IMPC mice or data for Bcl2l11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bcl2l11tm281630(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bcl2l11em1(IMPC)H Indel Mice
Bcl2l11em2(IMPC)H Indel Mice

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